diff --git a/data/STR-disease-loci.csv b/data/STR-disease-loci.csv
index e0abffa..b5b8bc3 100644
--- a/data/STR-disease-loci.csv
+++ b/data/STR-disease-loci.csv
@@ -1,69 +1,73 @@
-chrom,start_hg38,stop_hg38,start_hg19,stop_hg19,start_t2t,stop_t2t,notes_t2t,id,disease_id,gene_strand,reference_motif_reference_orientation,pathogenic_motif_reference_orientation,pathogenic_motif_gene_orientation,benign_motif_reference_orientation,benign_motif_gene_orientation,unknown_motif_reference_orientation,unknown_motif_gene_orientation,disease,gene,flank_motif,locus_structure,Inheritance,type,location_in_gene,normal,normal_min,normal_max,intermediate,intermediate_min,intermediate_max,pathogenic,pathogenic_min,pathogenic_max,ref_copies,repeatunitlen,age_onset,age_onset_min,age_onset_max,novel,Mechanism,Mechanism_detail,Mechanism_source,source,notes,details,width,OMIM,Incidence,Prevalence,STRipy_gene,gnomAD_gene,GeneReviews,Year
-chrX,148500605,148500753,147582125,147582273,146765191,146765342,(GCC)51.3,FRAXE_AFF2,FRAXE,+,GCC,GCC,,,,,,"Fragile X syndrome, FRAXE type",AFF2,,(GCC)*,XR,5' UTR,5’ Region,4-39,4,39,,,,200-2000,200,2000,50.3,3,2-10,2,10,ref,"LOF, reduced gene expression",Loss of function via transcriptional silencing,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, OMIM, GeneReviews NBK535148",,,148,309548,,Unknown,AFF2,AFF2,NBK535148,1993
-chr2,100104799,100104824,100721261,100721286,100563686,100563738,(GCC)17.7,FRA2A_AFF3,FRA2A,-,GCC,GCC,,,,,,Intellectual disability associated with fragile site FRA2A,AFF3,,(GCC)*,AD,Intronic,"Intron ",3-20,3,20,,,,300,300,300,8.7,3,Early childhood,,,ref,"Decreased gene expression, methylation","""silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene""",malacard,"https://doi.org/10.1038/s41580-021-00382-6, PMC3998887","Path threshold may actually be higher than 300, assay was not sensitive enough",,25,601464,,,,,,2014
-chrX,67545317,67545419,66765159,66765261,65975148,65975250,(GCA)33.3,SBMA_AR,SBMA,+,GCA,GCA,,,,,,"Spinal and bulbar muscular atrophy, Kennedy Disease",AR,,(GCA)*,XR,Coding,Exon 1,9–34,9,34,36-37,36,37,38–68,38,68,34.0,3,20-49,20,49,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,102,313200,,"1:300,000 males (SBMA); 1/40,000 (Kennedy Disease)",AR,AR,NBK1333,1991
-chrX,25013649,25013697,25031766,25031814,24597886,24597934,(GCC)14.7,EIEE1_ARX,EIEE1,-,NGC,NGC,,,,,,Early-infantile epileptic encephalopathy,ARX,,(NGC)*,XR,Coding,Exon 2,10-16,10,16,,,,17-27,17,27,14.7,3,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"GeneReviews NBK535148, OMIM",Exon 2 aa 110-115,,43,308350; 300419; 300215,"1-2/100,000","~<1/35,000",ARX_1,ARX_1,NBK535148,
-chrX,25013530,25013565,25031647,25031682,24597767,24597799,(GGCCGCGGCGGCCGC)2.2,PRTS_ARX,PRTS,-,NGC,NGC,,,,,,Partington syndrome,ARX,,(NGC)*,XR,Coding,Exon 2,12,12,12,,,,20,20,20,12.0,3,1-3,1,3,ref,Polyalanine,Polyalanine,(OMIM) (doi.org/10.1007/s11604-022-01343-5),"GeneReviews NBK535148, OMIM","Novel, Exon 2 aa 144-155",,35,309510,,Unknown,ARX_2,ARX_2,NBK535148,
-chr12,6936717,6936775,7045880,7045938,6947904,6947941,(CAG)12.7,DRPLA_ATN1,DRPLA,+,CAG,CAG,,,,,,Dentatorubral-Pallidoluysian Atrophy,ATN1,,(CAG)*,AD,Coding,Exon 5,3–35,3,35,,,,48-93,48,93,19.0,3,1-72,1,72,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,58,125370,,"2-7/1,000,000",ATN1,ATN1,NBK1491,1994
-chr6,16327634,16327724,16327865,16327955,16200189,16200282,(TGC)31.1,SCA1_ATXN1,SCA1,-,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 1,ATXN1,,(CTG)*,AD,Coding,Exon 8,6–35,6,35,36-38,36,38,39–91,39,91,30.3,3,20-40 typical,13,60,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1184, s40478-021-01201-x",Interruptions: CAT,,90,164400,,"1-2/100,000",ATXN1,ATXN1,NBK1184,1993
-chr22,45795355,45795424,46191235,46191304,46280060,46280129,(ATTCT)15.0,SCA10_ATXN10,SCA10,+,ATTCT,ATTCT,,,,,,Spinocerebellar Ataxia Type 10,ATXN10,,(ATTCT)*,AD,Intronic,Intron 9/11,10–32,10,32,280-850,280,850,800-4500,800,4500,14.0,5,12-48,12,48,ref,Unknown,Transdominant mechanism theorized,(malacard),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",Interruptions: ATCCT,,69,603516,,Unknown,ATXN10,ATXN10,,2000
-chr12,111598950,111599019,112036754,112036823,111575873,111575940,(GCT)22.3,SCA2_ATXN2,SCA2,-,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 2,ATXN2,,(CTG)*,AD/AR,Coding,Exon 1,14–31,14,31,32-34,32,34,33–200,33,200,23.3,3,30-40 typical,25,50,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, GeneReviews NBK1275, s40478-021-01201-x","29–32 repeats: increased ALS risk, Interruptions: CAA, CGG, CGC. Parkinson disease, late-onset, susceptibility.",,69,183090,,"1-2/100,000 (population dependent)",ATXN2,ATXN2,NBK1275,1996
-chr14,92071012,92071053,92537356,92537397,86300520,86300603,(CTG)28.0,SCA3_ATXN3,"SCA3, MJD",-,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 3/Machado-Joseph Disease,ATXN3,,(CTG)*,AD,Coding,Second last exon,12–44,12,44,45-59,45,59,60-87,60,87,14.0,3,10-50 typical,10,50,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x","""14:92071009-92071042""",,41,109150,,"1–5/100,000",ATXN3,ATXN3,NBK1196,1994
-chr3,63912685,63912716,63898361,63898392,63956303,63956334,(GCA)10.7,SCA7_ATXN7,SCA7,+,CAG,CAG,,,,,,Spinocerebellar Ataxia Type 7,ATXN7,(CAG)n(CCG)4,(CAG)*(CCG)+,AD,Coding,"Exon 1, 2, or 3 (depending on isoform)",4–19,4,19,28-35,28,35,34–460,34,460,10.7,3,0-50,0,50,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,31,164500,,"<1/300,000",ATXN7,ATXN7,NBK1256,1996
-chr13,70139383,70139429,70713515,70713561,69361244,69361271,(CTG)9.3,SCA8_ATXN8OS,SCA8,+,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 8,ATXN8OS,(CTA)10(CTG)n,(CTA)*(CTG)*,AD,3' UTR,Exon 5 or 3’ UTR depending on transcript,15–50,15,50,50-70,50,70,71-1300,71,1300,15.3,3,20-50 typical,1,73,ref,"Polyglutamine/toxic gain-of-function; Unknown ","Polyglutamine/toxic gain-of-function; Unknown ",(OMIM) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x","Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS (603680), which, when transcribed, produces a noncoding CUG expansion RNA (Moseley et al., 2006). Roda et al. suggested that the ATXN8 or ATXN8OS gene should not be evaluated in isolation as a candidate gene for spinocerebellar degenerative disease",,46,608768,,"<1/100,000",ATXN8OS,ATXN8OS,NBK1268,1999
-chr16,66490397,66490466,66524300,66524369,72284667,72284761,(AATAA)19.4,SCA31_BEAN1,SCA31,+,AATAA,"TGGAA,TAGAA",,,,"AAAAA,AAAAC,AAATG,AGAAA,ATAAG,TAAAC,TAACA,TACAA,TCAAA,TGCAA",,Spinocerebellar Ataxia Type 31,BEAN1,,(TGGAA)*(TAGAA)*,AD,Intronic,Intron 4/4,0-10,0,10,,,,>110,110,760,14.4,5,20-72,20,72,novel,Epigenetic,"Role in heterochromatin or chromosomal structure theorized ",(OMIM),"OMIM, Sato 2009, 19878914 (Pubmed), https://doi.org/10.1038/s41580-021-00382-6","Novel, STR-containing insertion, not present in reference genome: Reds disagree on normal/pathogenic sizes",,69,117210,,Unknown (more common in Japanese pop),BEAN1,BEAN1,NBK535148,2009
-chr9,27573484,27573546,27573482,27573544,27584063,27584155,(GCCCCG)15.8,FTDALS1_C9orf72,FTDALS1,-,GGCCCC,GGCCCC,,,,,,Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS),C9orf72,,(GGCCCC)*,AD,Intronic,Intron 1 or 5' depending on transcript,3–25 (2-19 Reds),2,20,20-60,20,60,250-2000,250,2000,10.8,6,27-85,27,85,ref,RNA toxicity proposed,"""The HRE forms DNA and RNA G-quadruplexes with distinct structures and promotes RNA/DNA hybrids (R-loops). The structural polymorphism causes a repeat length-dependent accumulation of transcripts aborted in the HRE region.""",OMIM,"Hannan 2018, GeneReviews NBK535148, OMIM, s40478-021-01201-x",,,62,105500,,The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population,C9ORF72,C9ORF72,NBK268647,2011
-chr19,13207859,13207898,13318673,13318712,13333137,13333176,(CTG)13.3,SCA6_CACNA1A,SCA6,-,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 6,CACNA1A,,(CTG)*,AD,Coding,Last Exon: 47 or 48,4–18,4,18,19,19,19,20–33,20,33,13.3,3,19-73,19,73,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,39,183086,,"<1/1,000,000",CACNA1A,CACNA1A,NBK1140,1997
-chr11,119206289,119206322,119076999,119077032,119226663,119226696,(CGG)11.3,JBS_CBL,JBS,+,CGG,CGG,,,,,,Jacobsen syndrome (FRAX11B fragile site),CBL,,(CGG)*,AD,5' UTR,,<79,11,79,,,,>100,100,100,11.3,3,,0,0,ref,,No information found,(OMIM),"https://doi.org/10.1038/s41580-021-00382-6, 7603564 (PubMed)",,,33,147791,,"1/100,000 births",CBL,,,
-chr19,18786034,18786049,18896844,18896859,18921630,18921645,,EDM1-PSACH_COMP,"EDM1, PSACH",-,GTC,GTC,,,,,,"Multiple epiphyseal dysplasia, Pseudoachondroplasia",COMP,,(GTC)*,AD,Coding,,5,5,5,,,,4 or 6-7,6,7,5.0,3,13,13,13,ref,Protein LOF,"LOF, domain dependent",(https://pubmed.ncbi.nlm.nih.gov/29530484/),Pathogenic Short Tandem Repeats Gnomad v3.1.2,"Two diseases, same locus. Both expansions and contractions associated with disease",,15,132400; 177170,,"9-16/100,000 births",COMP,COMP,NBK1123; NBK1487,
-chr1,57367044,57367125,57832716,57832797,57245936,57245977,(AAAAT)8.6,SCA37_DAB1,SCA37,-,AAAAT,GAAAT,,,,AAAAA,,Spinocerebellar Ataxia Type 37,DAB1,,(AAAAT)*(GAAAT)*(AAAAT)*,AD,Intronic,Intron 1 (most isoforms),0-16,0,16,,,,31-75,31,75,16.6,5,18-64,18,64,novel,Protein toxic GOF,toxic gain-of-function mechanism,(OMIM),"Seixas et al 2017 AJHG, NBK541729, s40478-021-01201-x","Novel. Normal: [(ATTTT)7–400] Pathogenic: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90], ATTTC within (ATTTT)7–400 repeat region",,81,615945,,"<1/1,000,000",DAB1,DAB1,NBK541729,2017
-chr12,50505002,50505022,50898785,50898805,50468096,50468116,,FRA12A_DIP2B,FRA12A,+,GGC,GGC,,,,,,"Intellectual developmental disorder, FRA12A type",DIP2B,,(GGC)*,AD,5' UTR,,6-23,6,23,~139-206,139,206,~273-306,273,306,7.0,3,,1,1,ref,"Increased gene expression, methylation","Increased gene expression, methylation","(OMIM, https://www.medrxiv.org/content/10.1101/2022.09.12.22279739v3.full-text)","OMIM, NBK535148, https://www.medrxiv.org/content/10.1101/2022.09.12.22279739v3.full-text",,,20,136630,,,DIP2B,DIP2B,NBK535148,
-chrX,31284557,31284605,31302674,31302722,30882695,30882743,(TTC)22.7,DMD_DMD,DMD,-,TTC,TTC,,,,,,Duchenne muscular dystrophy,DMD,,(TCC)*,XR,Intronic,,<33,16,33,,,,>59,59,82,16.7,3,dependent on repeat number (birth to adulthood),0,3,ref,Protein LOF,Functional defect in dystrophin/dystroglycan,(https://doi.org/10.1007/s10038-006-0056-7),PMID: 27417533,,There is conflicting evidence for the association between this repeat expansion and Duchenne muscular dystrophy. The association was reported in a single family (PMID: 27417533). The population frequency of the proposed pathogenic allele is much higher than expected for a highly penetrant early-onset condition.,48,310200,,,DMD,DMD,NBK535148,
-chr19,45770204,45770266,46273462,46273524,48597739,48597756,,DM1_DMPK,DM1,-,CAG,CAG,,,,,,Myotonic Dystrophy Type 1,DMPK,,(CAG)*,AD,3' UTR,Last exon,5–34,5,34,35-49,35,49,50-1000,50,1000,20.7,3,"0-30, mild up to 70",0,70,ref,RNA GOF,RNA gain-of-function - RNA gelation leading to misregulation of alternative splicing,(doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1165, s40478-021-01201-x",Interruptions: CCG,,62,160900,,"5-20/100,000",DMPK,DMPK,NBK1165,1992
-chrX,147912037,147912111,146993555,146993629,146176665,146176769,(GGC)35.0,FXS_FMR1,"FXS, FXTAS, POF1",+,CGG,CGG,,,,,,"Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1",FMR1,,(CGG)*,XD,5' UTR,Exon 2,5–44,5,44,45-200,45,200,200-2000,200,2000,20.6667,3,"FXS 2, FXTAS 60-65",2,65,ref,"LOF via decreased gene expression in FXS, GOF in FXTAS",Loss of function via transcriptional silencing in FXSRNA GOF in FXTAS,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, NBK1384","FXTAS/POI 55–200, FXS >200, late onset",,74,300624; 300623,,"16-25/100,000 males",FMR1,FMR1,NBK1384,1991
-chr3,138946020,138946062,138664862,138664904,141687014,141687051,(GCGGCTGCAGCCGCA)2.5,BPES_FOXL2,BPES,-,NGC,NGC,,,,,,"Blepharophimosis, epicanthus inversus, and ptosis",FOXL2,,(NGC)*,AD,Coding,Exon 1,<14,14,14,,,,>15,15,15,14.0,3,"0, can have infertility in childbearing age",0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),NBK535148,,,42,110100,,"1 in 50,000 births globally",FOXL2,FOXL2,NBK535148,2001
-chr9,69037286,69037304,71652202,71652220,81210843,81210861,(AAG)9.7,FRDA_FXN,FRDA,+,GAA,GAA,,,,,,Friedreich ataxia,FXN,(A)16(GAA)n,(A)*(GAA)*,AR,Intronic,Intron 1,5–33,5,33,34-65,34,65,66 to 1700,66,1700,6.0,3,5-25,5,25,ref,"LOF, reduced gene expression",Loss of function via transcriptional silencing,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148",Not annotated by TRF?,,2,229300,,"1/50,000 (US), 1/40,000 (global)",FXN,FXN,NBK1281,1996
-chr19,14496041,14496074,14606853,14606886,14622656,14622702,(CCG)15.7,OPDM2_GIPC1,OPDM2,-,CCG,CCG,,,,,,Oculopharyngodistal myopathy,GIPC1,,(CCG)*,AD,5' UTR,Exon 1,6-29,6,29,,,,70-138,70,138,14.7,3,10-29,10,29,ref,RNA toxicity,RNA mediated toxicity hypothesized; unknown,"(OMIM), (doi.org/10.1007/s11604-022-01343-5)","Pathogenic Short Tandem Repeats Gnomad v3.1.2, 32413282 (Pubmed)",,,33,618940,,Population dependent,GIPC1,GIPC1,NBK535148,2020
-chr2,190880873,190880920,191745599,191745646,191369983,191370024,(GCA)14.0,GDPAG_GLS,GDPAG,+,GCA,GCA,,,,,,Glutaminase deficiency,GLS,,(GCA)*,AR,5' UTR,Exon 1,5-26,5,26,,,,90 - 1500,90,1500,16.0,3,Early childhood,0,1,ref,"Decreased gene expression, methylation",Change in histone modification decreases transcription,(OMIM),"van Kuilenburg 2019 NEJM, 30970188 (Pubmed)",Several compound het cases reported,,47,618412,,"As of 2019, only 7 cases",GLS,GLS,NBK535148,2019
-chr7,27199678,27199732,27239297,27239351,27335815,27335849,(GCCGCGGCCGCCGCCG)1.9,HFG_HOXA13-III,HFG-III,-,NGC,NGC,,,,,,Hand-foot-genital syndrome 3,HOXA13,,(NGC)*,AD,Coding,Exon 1,8-18,8,18,,,,24-32,24,32,18.0,3,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,54,140000,,Rare,HOXA13_3,HOXA13_3,NBK1423,2000
-chr7,27199825,27199861,27239444,27239480,27335914,27335954,(GCAGCCGCCGCCGCT)2.9,HFG_HOXA13-II,HFG-II,-,NGC,NGC,,,,,,Hand-foot-genital syndrome 2,HOXA13,,(NGC)*,AD,Coding,Exon 1,12,12,12,,,,18,18,18,12.0,3,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2,  NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,36,140000,,Rare,HOXA13_2,HOXA13_2,NBK1423,2000
-chr7,27199924,27199966,27239543,27239585,27335920,27335951,(GCAGCCGCCGCCGCT)2.7,HFG_HOXA13-I,HFG-I,-,NGC,NGC,,,,,,Hand-foot-genital syndrome 1,HOXA13,,(NGC)*,AD,Coding,Exon 1,14,14,14,,,,22,22,22,14.0,3,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats, Gnomad v3.1.2, NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,42,140000,,Rare,HOXA13_1,HOXA13_1,NBK1423,2000
-chr2,176093058,176093103,176957786,176957831,176581179,176581220,(GGC)14.0,SD5_HOXD13,SD5,+,GCN,GCN,,,,,,Syndactyly,HOXD13,,(GCN)*,AD,Coding,Exon 1,< 15,14,15,,,,>22,22,22,14.0,3,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,186000,,Unknown,HOXD13,HOXD13,NBK535148,1996
-chr4,3074877,3074940,3076604,3076667,3073604,3073694,(CAG)30.3,HD_HTT,HD,+,CAG,CAG,,,,,,Huntington disease,HTT,(CAG)nCAACAG(CCG)12,(CAG)*CAACAG(CCG)*,AD,Coding,Exon 1,6–26,6,26,"27-35 unstable, 36-39 reduced penetrance",27,39,40–250 (>60 assocated with onset age <20),40,250,21.3,3,35-44,3,70,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews, PMID: 12791042",CAG exp only pathogenic. Interruptions impact pathogenicity.,,63,143100,,"1/10,000",HTT,HTT,NBK1305,1993
-chr16,87604283,87604329,87637889,87637935,93675724,93675776,(GCT)17.3,HDL2_JPH3,HDL2,+,CTG,CTG,,,,,,Huntington disease-like 2,JPH3,,(CTG)*,AD,Coding,Exon 2,6–28,6,28,29-39,29,39,40–58,40,58,15.6667,3,12-66,12,66,ref,,"""unstable vertical transmission""",(doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1529",reflen + pos from HipSTR,,46,606438,,"<1/1,000,000",JPH3,JPH3,NBK1529,2001
-chr8,104588972,104588999,105601200,105601227,105716410,105716441,(CGC)10.7,OPDM1_LRP12,OPDM1,-,CGC,CGC,,,,,,Oculopharyngodistal myopathy type 1,LRP12,,(CGC)*,AD,5' UTR,,13-45,13,45,,,,90,90,90,11.7,3,"Adult onset, variable (mean 22.1 in one study)",7,50,ref,RNA toxicity,RNA mediated toxicity hypothesized; unknown,"(OMIM), (doi.org/10.1007/s11604-022-01343-5)","OMIM 164310, Ishiura et al [2019], Ehdn, NBK535148, PMID 31332380",CGG/CGT,,27,164310,,Population dependent,LRP12,LRP12,NBK535148,2019
-chr5,10356339,10356411,10356451,10356523,10295521,10295593,(TTTTA)14.8,FAME3_MARCHF6,FAME3,+,TTTTA,TTTCA,,,,"ATGTT,TAGTT,TTTTG,TTTTT",,Familial adult myoclonic epilepsy type 3,MARCHF6,,(TTTTA)*(TTTCA)*,AD,Intronic,Intron 1,0,,,,,,"791-1,035 repeats",791,1035,14.8,5,10-40,10,40,novel,Unknown,Noted as unknown in literature,(OMIM),"Florian, R.T. Nat Comm. 2019",TTTTA + TTTCA,,72,613608,,"~<1/35,000",MARCHF6,MARCHF6,NBK535148,2019
-chr15,22786677,22786701,23086366,23086390,20458505,20458536,(GCG)10.7,ALS1_NIPA1,ALS1,+,GCG,GCG,,,,,,Amyotrophic lateral sclerosis,NIPA1,,(GCG)*,AD,Coding,,6-10,6,10,,,,> 11,11,56,10.7,3,"Variable, 19-46 familial",19,46,ref,,No information found,N/A in GeneCard,"Pathogenic Short Tandem Repeats Gnomad v3.1.2, 30342764 (Pubmed), path range from gnomAD",Proposed modifier for ALS,,24,105400,"1.5-4.7 per 100,000 person-years (All ALS, Europe/NA)","2.7-7.4/100,000 (All ALS, not just this locus)",NIPA1,NIPA1,,
-chr20,2652733,2652757,2633379,2633403,2683200,2683224,(GCCTGG)8.8,SCA36_NOP56,SCA36,+,GGCCTG,GGCCTG,,,,,,Spinocerebellar ataxia type 36,NOP56,(GGCCTG)n(CGCCTG)3,(GGCCTG)*(CGCCTG)*,AD,Intronic,Intron 1,3 to 14,3,14,15-649,15,649,650-2500,650,2500,7.2,6,~52 (mean),48,57,ref,Protein toxic GOF,toxic gain-of-function mechanism,(OMIM),"GeneReviews, OMIM, NBK231880",,,42,614153,,Unknown,NOP56,NOP56,,2011
-chr1,149390803,149390842,145209324,145209354,148519696,148519738,(GGC)14.3,NIID_NOTCH2NLC,NIID,+,GGC,GGC,,,,,,"Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype",NOTCH2NLC,,(GGC)*,AD,5' UTR,5' Region,7–39,7,39,,,,66-517,66,517,13.3,3,16-76,16,76,ref,Unknown,May relate to methylation or RNA pathogenicity; Unknown,(OMIM) (doi.org/10.1007/s11604-022-01343-5),"doi: 10.1038/s41588-019-0458-z, https://doi.org/10.1016/j.ajhg.2019.05.013, s40478-021-01201-x","May be issues with parology between genes: C253572.1, NOTCH2, NOTCH2NL, NBPF14, NBPF19 ?? Motif variation in controls: (AGG)(CGG)n(AGG)0-3(CGG)0-2. Methylation involved",,39,603472,,Unknown,NOTCH2NLC,NOTCH2NLC,NBK535148,2019
-chr10,79826383,79826404,81586139,81586160,80695712,80695748,(GCG)12.7,OPML1_NUTM2B-AS1,OPML1,+,GGC,GGC,,,,,,Oculopharyngeal myopathy with leukoencephalopathy 1,NUTM2B-AS1,,(GGC)*,AD,lncRNA,Exon 1 (noncoding),3-16,3,16,,,,>700,700,700,7.0,3,,15,40,ref,RNA toxicity,"RNA mediated toxicity hypothesized, unknown",(OMIM) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, Ishiura 2019, doi: 10.1038/s41588-019-0458-z, https://doi.org/10.1038/s41580-021-00382-6","Not in TRF annotation, alt transcript in opposite direction: LOC642361",,21,618637,,Couldn't find,NUTM2B-AS1,NUTM2B-AS1,NBK535148,2019
-chr14,23321472,23321502,23790681,23790711,17522488,17522518,,OPMD_PABPN1,OPMD,+,GCN,GCN,,,,,,Oculopharyngeal muscular dystrophy,PABPN1,,(GCN)*,AD/AR,Coding,Exon 1,10,10,10,,,,12-17,12,17,7.0,3,26-65,26,65,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, GeneReviews NBK1126, s40478-021-01201-x","AR for 11 repeats, AD >12 repeats. Most known patients have (GCG)+, but GCN or any polyalanine may be pathogenic",,20,164300,,"1/100,000 Western countries",PABPN1,PABPN1,NBK1126,1998
-chr4,41745972,41746032,41747989,41748049,41719745,41719805,(GCC)15.7,CCHS_PHOX2B,CCHS,-,GCN,GCN,,,,,,Congenital central hypoventilation syndrome,PHOX2B,,(GCN)*,AD,Coding,Exon 3,20,15,20,24,24,24,25-33,25,33,15.7,3,0-20,0,20,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, GeneReviews NBK1427, s40478-021-01201-x",ReferenceRegion: 4:41745971-41746032,,46,209880,,1:148000-200000 births (Estimated),PHOX2B,PHOX2B,NBK1427,2003
-chr15,89333589,89333629,89876820,89876860,87088412,87088452,(GCT)13.7,CPEO_POLG,CPEO,-,GCT,GCT,,,,,,"Progressive external ophthalmoplegia, Parkinson’s disease",POLG,,(CTG)*TTG(CTG)*,,,,10,10,10,,,,Deviation from 10 may impart disease risk with variable penetrance,,,13.7,3,23-87,23,87,ref,,No information found,N/A in GeneCard,"PMC2905783, PMID: 20399836, PMID: 10196696",Unconfirmed association,There is conflicting evidence for the association between this repeat expansion and Parkinson's risk (PMID: 20399836 and PMID: 10196696). Deviation from 10 may impart disease risk with variable penetrance.,40,Disease association unclear,,,,,,
-chr5,146878728,146878759,146258291,146258322,147414734,147414765,(GCT)15.7,SCA12_PPP2R2B,SCA12,-,GCT,GCT,,,,,,Spinocerebellar ataxia type 12,PPP2R2B,,(GCT)*,AD,Promoter,,4–32,4,32,,,,51–78,51,78,10.7,3,8-55,8,55,ref,Unknown,Noted as unknown in literature,"N/A in GeneCard,","Hannan 2018, Mirkin 2007, OMIM, NBK535148, s40478-021-01201-x",(Roda et al. suggested that the ATXN8 or ATXN8OS gene should not be evaluated in isolation as a candidate gene for spinocerebellar degenerative disease),,31,604326,,Unknown,PPP2R2B,PPP2R2B,NBK535148,1999
-chr9,130681606,130681639,133556993,133557026,142886569,142886595,(CGC)9.0,HSAN-VIII_PRDM12,HSAN VIII,+,GCC,GCC,,,,,,Hereditary sensory and autonomic neuropathy type VIII,PRDM12,,(GCC)*,AR,Coding,Exon,<14,12,14,,,,>18,18,19,12.0,3,0,0,0,ref,"LOF, epigenetic","""mutations abrogated the histone-modifying potential of PRDM12, consistent with a loss of function""",OMIM,"Pathogenic Short Tandem Repeats Gnomad v3.1.2, https://doi.org/10.1038/ng.3308",,,33,616488,,"<1/1,000,000",PRDM12,PRDM12,NBK535148,
-chr4,159342527,159342618,160263679,160263770,162693304,162693405,(TTTTA)20.4,FAME7_RAPGEF2,FAME7,+,TTTTA,TTTCA,,,,"TTTTT,TTATG",,Familial adult myoclonic epilepsy type 7,RAPGEF2,,(TTTTA)*(TTTCA)*(TTTTA)*,AD,Intronic,Intron 14,0-1,0,1,,,,>=60,60,60,17.4,5,"~18, 23-37",18,37,novel,RNA toxicity,RNA toxicity hypothesized,(10.1038/s41588-018-0067-2),"Ishiura 2018, 29507423 (Pubmed), https://sci-hub.hkvisa.net/10.1111/ene.13848","Novel, (TTTTA)exp(TTTCA)exp(TTTTA)n, but only the TTTCA is specific to affected individuals, Alu-associated repeat, incomplete penetrance",,91,618075,,"~<1/35,000",RAPGEF2,RAPGEF2,NBK535148,2018
-chr4,39348425,39348483,39350045,39350103,39318078,39318136,(AAAAG)11.8,CANVAS_RFC1,CANVAS,-,AAAAG,"AAGGG, ACAGG",,"AAAAG,AAAGG, AAGAG, AGAGG",,"AAAAA,AAAAC,AACGG,AAGAC,AAGGC,AAGGT,AGAAC,AGGGC,AGGGG,GAAAC,GGGAC,GTGAG,AAAAGA,AAAGGA,GGAAAG",,"Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",RFC1,,(AAGGG)*(ACAGG)*,AR,Intronic,Intron 2,0-11,0,11,,,,>400,400,2000,11.8,5,33-71,33,71,novel,,No information found,N/A in GeneCard,"OMIM, Cortese 2019, 30926972 (Pubmed), https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01201-x/tables/1, s40478-021-01201-x, https://www.ncbi.nlm.nih.gov/books/NBK564656/, https://doi.org/10.1101/2023.05.12.540470","Novel, ref is AAAAG(11), path: (AAGGG)400–2000 or (ACAGG)exp","Pathogenic expansions may be flanked by other motifs. For example, (AAAGG)10-25(AAGGG)exp(AAAGG)4-6 (PMID: 32851396). Motif heterogeneity is common in unaffected individuals",58,614575,,"Unknown, <1/1,000,000",RFC1,RFC1,NBK564656,2019
-chr12,123533720,123533755,124018267,124018302,123532574,123532608,(GGC)11.7,OPDM4_RILPL1,OPDM4,-,GGC,GGC,,,,,,Oculopharyngodistal myopathy type 4,RILPL1,,(GGC)*,AD,5' UTR,,9-16,9,16,,,,139 to 197,139,197,11.7,3,,14,27,ref,Protein toxic GOF,"toxic gain-of-function mechanism ",(Malacard),Yu 2022 AJHG,toxic poly-glycine protein and/or toxic RNA gain-of-function effects,,35,,,Population dependent,RILPL1,,,2022
-chr6,45422750,45422792,45390487,45390529,45257567,45257611,(GGC)15.0,CCD_RUNX2,CCD,+,GCN,GCN,,,,,,Cleidocranial dysplasia,RUNX2,,(GCN)*,AD,Coding,Exon 3,<17,4,17,,,,>27,27,27,15.0,3,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,42,119600,,"1/1,000,000 births (likely underdiagnosed)",RUNX2,RUNX2,NBK1513,1997
-chr8,118366813,118366918,119379052,119379157,119495248,119495353,(AAATA)21.6,FAME1_SAMD12,FAME1,-,TAAAA,TGAAA,,,,"AAAAA,TAAAC,TAACA,TACAA,TACAC",,Familial adult myoclonic epilepsy type 1,SAMD12,,(TAAAA)*(TGAAA)*(TAAAA)*,AD,Intronic,Intron 4/4,0,0,0,,,,105–3680,105,3680,21.6,5,18-50,18,50,novel,RNA toxicity proposed,RNA molecules,(OMIM),Ishiura 2018. https://movementdisorders.onlinelibrary.wiley.com/doi/full/10.1002/mds.27832,"Novel, pathogenic alleles include expansions of TTTTAn + TTTCAn, but only the TTTCA is specific to affected individuals, check reference and pathogenic sites with Stranger. TTTCA within TTTTA repeat region",,105,601068,,"~<1/35,000",SAMD12,SAMD12,NBK535148,2018
-chrX,140504316,140504361,139586481,139586526,138816205,138816239,(GCGGCAGCGGCGGCGG)1.9,XLMR_SOX3,XLMR,-,NGC,NGC,,,,,,"X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone    ",SOX3,,(NGC)*,XR,Coding,Exon 1,< 15,15,15,,,,> 22,22,26,15.0,3,Infancy - childhood,0,9,ref,Polyalanine,Polyalanine,(doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,300123,,,SOX3,SOX3,NBK535148,2002
-chr2,96197067,96197121,96862805,96862859,96703675,96703729,(AAAAT)11.6,FAME2_STARD7,FAME2,-,AAAAT,AAATG,,,,"AAAAA,AAAAC,AAACC,AAACG,AAACT,AACTC,AACTG,AATAC,AATAG,ATAAC",,Familial adult myoclonic epilepsy 2,STARD7,,(AAATG)*(AAAAT)*,AD,Intronic,,0,0,0,,,,>274,274,274,11.6,5,mean 25,5,60,novel,RNA toxicity,"RNA toxicity ",(10.1038/s41467-019-12671-y),Pathogenic Short Tandem Repeats Gnomad v3.1.2,,,54,607876,,"~<1/35,000",STARD7,STARD7,NBK535148,2019
-chr6,170561907,170562017,170870995,170871105,171935459,171935569,(GCA)37.0,SCA17_TBP,SCA17,+,GCA,GCA,,,,,,Spinocerebellar ataxia type 17,TBP,,(GCA)*,AD,Coding,Exon 3,25–40,25,40,41–48,41,48,49 to 66,49,66,37.0,3,Most >30,3,55,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1438","Parkinson disease,late-onset",,110,607136,,"Unknown (global), 0.47:1,000,000 (Japanese)",TBP,TBP,NBK1438,1999
-chr22,19766762,19766807,19754285,19754330,20143615,20143660,,TOF_TBX1,TOF,+,GCN,GCN,,,,,,Tetralogy of Fallot,TBX1,,(GCN)*,AD,Coding,,<15,15,15,,,,>25,25,25,15.0,3,0,0,0,ref,Polyalanine,Polyalanine,(OMIM),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,187500,,Unknown for specific gene,TBX1,TBX1,NBK535148,
-chr18,55586155,55586227,53253386,53253458,55789234,55789288,(AGC)18.3,FECD3_TCF4,FECD3,-,CAG,CAG,,,,,,Fuchs endothelial corneal dystrophy 3,TCF4,,(CAG)*,AD,Intronic,Intron 1,10 - 40,10,40,,,,>50,50,150,25.3,3,~40,32,70,ref,RNA toxicity proposed,"""sequestration of MBNL1 in RNA foci, similar to the mechanism underlying myotonic dystrophy-1 """,(10.1074/jbc.M114.621607),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,72,613267,,~4/100 (over 40),TCF4,TCF4,NBK535148,2015
-chr16,24613439,24613532,24624760,24624853,24890367,24890430,(ATTTT)12.8,FAME6_TNRC6A,FAME6,+,TTTTA,TTTCA,,,,TTTTT,,Familial adult myoclonic epilepsy type 6,TNRC6A,,(TTTTA)*(TTTCA)*(TTTTA)*,AD,Intronic,,0,0,0,,,,">1100, >=10, 29",1100,1100,18.8,3,20s-70s,20,70,novel,RNA toxicity,RNA toxicity hypothesized,(10.1038/s41588-018-0067-2),"Ishiura 2018; gnomad v3.1.2, 29507423 (Pubmed), https://doi.org/10.1038/s41597-020-00633-9, https://stripy.org/database/TNRC6A","Novel, reported pathogenic alleles: (TTTTA)22 (TTTCA)exp (TTTTA)exp, but only the TTTCA is specific to affected individuals, Alu-associated repeat. Non-pathogenic reference TTTTA repeat was expanded in nine healthy subjects 40-120 repeats and in two individuals potentially even longer (Ishiura et al., 2018).",,93,618074,,"~<1/35,000",TNRC6A,TNRC6A,NBK535148,2018
-chr16,17470907,17470922,17564764,17564779,17477910,17478013,(GCC)34.7,DBQD2_XYLT1,"DBQD2, BSS",-,GCC,GCC,,,,,,Baratela-Scott Syndrome/Desbuquois dysplasia 2,XYLT1,,(GCC)*,AR,Promoter,Intron 1,<20,0,20,,,,>72,72,110,0.0,3,0,0,0,ref,Methylation,Methylation,(doi.org/10.1016/j.ajhg.2018.11.005),"LaCroix 2019, gnomad v3.1.2, 30554721",Repeat is within a sequencing missing from hg38,,1,615777,,"<1 / 1,000,000 births",XYLT1,XYLT1,NBK535148,2019
-chr3,183712188,183712222,183429976,183430010,186521657,186521706,(ATTTT)10.0,FAME4_YEATS2,FAME4,+,TTTTA,TTTCA,,,,"TTTTT,TGTTA",,Familial adult myoclonic epilepsy 4,YEATS2,,(TTTTA)*(TTTCA)*,AD,Intronic,,0,0,0,,,,>1000,1000,1000,10.0,5,19.5 years (range 10-33) for tremor and 25 years (range 19-33) for seizures,10,33,novel,RNA toxicity,RNA toxicity hypothesized,(10.1093/brain/awz267),Pathogenic Short Tandem Repeats Gnomad v3.1.2,,,34,615127,,"~<1/35,000",YEATS2,YEATS2,NBK535148,2019
-chr13,99985448,99985493,100637702,100637747,99196359,99196404,(GCG)15.3,HPE5_ZIC2,HPE5,+,GCN,GCN,,,,,,Holoprosencephaly-5,ZIC2,,(GCN)*,AD,Coding,Exon 3,< 15,15,15,,,,>25,25,25,15.3,3,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,609637,,Unknown ZIC2 specific,ZIC2,ZIC2,NBK535148,2001
-chrX,137566826,137566856,136648985,136649015,135876774,135876800,(CGC)9.0,VACTERLX_ZIC3,VACTERLX,+,GCN,GCN,,,,,,X-linked VACTERL syndrome,ZIC3,,(GCN)*,XR,Coding,,<10,9,10,11,11,11,>12,12,12,9.0,3,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,30,314390,,Unknown,ZIC3,ZIC3,NBK535148,
-chr7,55887601,55887639,55955294,55955332,56047901,56047939,(GCG)15.0,FRA7A_ZNF713,FRA7A,+,GCG,GCG,,,,,,Autism spectrum disorder associated with fragile site FRA7A,ZNF713,,(GCG)*,AD,Intronic,,5-22,5,22,85,85,85,450,450,450,13.0,3,,,,ref,Methylation,Methylation,(OMIM),"OMIM, https://pubmed.ncbi.nlm.nih.gov/25196122/",,,38,616181,,,,,,
-chr3,129172577,129172659,128891420,128891502,131917483,131917557,(CAGG)18.8,DM2_CNBP,DM2,-,CAGG,CAGG,,,,,,Myotonic Dystrophy Type 2,CNBP,(CAGG)n(CAGA)10(CA)19,(CAGG)*(CAGA)*(CA)*,AD,Intronic,,11–26,11,26,27-74,27,74,"75-11,000",75,11000,20.8,4,~30-40,30,40,ref,Aberrant splicing,Aberrant splicing,(doi.org/10.1093/hmg/ddr568),"Hannan 2018, Mirkin 2007, GeneReviews NBK1466, https://doi.org/10.1038/s41580-021-00382-6",(TG)n(TCTG)n(CCTG)n. CCTG expansion causes DM2 but the other repeat units are also variable.,,82,602668,,"2.29/100,000",CNBP,CNBP,NBK1466,2001
-chr21,43776443,43776479,45196324,45196360,42132055,42132091,,EPM1_CSTB,EPM1,-,CGCGGGGCGGGG,CGCGGGGCGGGG,,,,,,Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD),CSTB,,(CGCGGGGCGGGG)*,AR,Promoter,,2-3,2,3,12-17,12,17,>=30,30,81,,12,6-15,6,15,,,,,"OMIM, https://www.ncbi.nlm.nih.gov/books/NBK1142/, PMID: 9126745",,,,254800,,,,CSTB,NBK1142,1997
-chr17,80147059,80147139,78120858,78120938,81047454,81047534,,RCPS_EIF4A3,RCPS,-,CCTCGCTGTGCCGCTGCCGA,CCTCGCTGTGCCGCTGCCGA,,,,,,Richieri-Costa-Pereira syndrome,EIF4A3,,(CCTCGCTGCGCCGCTGCCGA)*(CCTCGCTGTGCCGCTGCCGA)*,AR,5'UTR,,1-9,1,9,10-13,10,13,>14,14,16,,20,0,0,,,,,,https://www.ncbi.nlm.nih.gov/books/NBK535148/,,,,268305,,,,EIF4A3,NBK535148,
-chr20,4699397,4699493,4680043,4680139,4738633,4738705,,CJD_PRNP,CJD,+,GGTGGTGGCTGGGGGCAGCCTCAT,CCTCATGGTGGTGGCTGGGGGCAG,,,,,,Creutzfeldt-Jakob disease,PRNP,(CCTCAGGGCGGTGGTGGCTGGGGGCAG)1(CCTCATGGTGGTGGCTGGGGGCAG)n,(CCTCAGGGCGGTGGTGGCTGGGGGCAG)*(CCTCATGGTGGTGGCTGGGGGCAG)*,AD,Coding,Exon 2,<=4,,4,,,,>=5,5,,,24,middle age,,,,,,,https://www.ncbi.nlm.nih.gov/books/NBK1229/,,,,123400,,,,PRNP,NBK1229,
-chr1,1435798,1435818,1371178,1371198,870158,870178,,HMNR7_VWA1,HMNR7,+,GGCGCGGAGC,GGCGCGGAGC,,,,,,"Neuronopathy, distal hereditary motor, autosomal recessive 7",VWA1,,(GGCGCGGAGC)*,AR,Coding,Exon 1,2,2,2,,,,Any deviation from 2,1,3,,10,<10,,10,,,,,,,Any deviation from 2 motifs is thought to be pathogenic,,619216,,,,VWA1,NBK535148,
-chr1,94418422,94418444,94883978,94884000,94266545,94266567,,OPDM_ABCD3,OPDM,+,GCC,GCC,,,,,,Oculopharyngodistal myopathy,ABCD3,,(GCC)*,AD,5'UTR,,3-44,3,44,,,,118-694,118,694,7.7,3,average age of onset was 26.7 years (range: 10-50 years),10,50,,,,,https://doi.org/10.1101/2023.10.09.23296582,,,,,,,,,,2023
-chr13,102161577,102161726,102813927,102814076,101377640,101377789,,SCA27B_FGF14,SCA27B,-,AAG,AAG,,,,,,Spinocerebellar ataxia 27B,FGF14,,(AAG)*,AD,Intronic,Intron 1,8-249,8,249,250-299,250,299,>300,300,637,50.3,3,"mean 55±13 for episodic symptoms, 59±11 for progressive ataxia",30,88,ref,Haploinsufficiency,Reduced transcript 2,PMCID: PMC10042577,"https://www.omim.org/entry/620174, https://www.cell.com/ajhg/fulltext/S0002-9297(22)00506-7, PMCID: PMC10042577, PMID: 37399286","250-300 pathogenic with incomplete penetrance, >300 complete penetrance",,,620174,,,FGF14,,,2023
-chr16,72787695,72787758,72821594,72821657,78605503,78605569,(GCC)22.3,SCA4_ZFHX3,SCA4,-,GCC,GCC,,,,,,Spinocerebellar ataxia 4,ZFHX3,,(GCC)*,AD,Coding,Last Exon,16-26 (majority 21),16,26,,,,46-64,46,64,21.3,3,Average 56.4 years. Range 20-60 years,20,60,ref,,,,https://doi.org/10.1101/2023.10.03.23296230,,Expansion found in affected individuals from 3 families and not in any of the 1001 controls,,600223,,,,,,2023
-chr16,67842863,67842950,67876766,67876853,73638637,73638724,,SCA_THAP11,SCA,+,CAG,CAG,,,,,,Spinocerebellar ataxia,THAP11,,(CAG)*,AD,Coding,Exon 1,20-38,20,38,,,,45-100,45,100,29.3,3,"Median age of onset was 34 (range, 4–51)",4,51,ref,PolyQ toxicity,,https://doi.org/10.1002/mds.29412,"https://doi.org/10.1002/mds.29412, https://doi.org/10.1042/ETLS20230018",,"Expansion found in affected individuals from 2 families and not in 500 controls. Longer alleles were associated wither earlier age of onset. For example, an individual with 100 repeats had age of onset at 4 years.",,,,,,,,2023
+chrX,148500605,148500753,147582125,147582273,146765191,146765342,(GCC)51.3,FRAXE_AFF2,FRAXE,+,GCC,GCC,,,,,,"Fragile X syndrome, FRAXE type",AFF2,,(GCC)*,XR,5' UTR,5’ Region,4-39,4,39,,,,200-2000,200,2000,50.3,3,Typical: 2-10; Range: 1-10 (developmental delays without physical features can make onset difficult to detect until schooling),1,10,2,10,ref,"LOF, reduced gene expression",Loss of function via transcriptional silencing,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, OMIM, GeneReviews NBK535148",,,148,309548,2/50000,"1-4/100,000 males (https://medlineplus.gov/genetics/condition/fragile-xe-syndrome); 1/50-100,000 males, more than 50 families (PMID: 11246464)",AFF2,AFF2,NBK535148,1993
+chr2,100104799,100104824,100721261,100721286,100563686,100563738,(GCC)17.7,FRA2A_AFF3,FRA2A,-,GCC,GCC,,,,,,Intellectual disability associated with fragile site FRA2A,AFF3,,(GCC)*,AD,Intronic,"Intron ",3-20,3,20,,,,300,300,300,8.7,3,Early childhood (small sample size) (PMID: 24763282),1,7,,,ref,"Decreased gene expression, methylation","""silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene""",malacard,"https://doi.org/10.1038/s41580-021-00382-6, PMC3998887","Path threshold may actually be higher than 300, assay was not sensitive enough",,25,601464,,"1/862 (1/654-1266) population prevalence of methylated AFF3 expansions (mild cognitive disability)
+https://www.medrxiv.org/content/10.1101/2023.05.03.23289461v1.full.pdf
+",,,,2014
+chrX,67545317,67545419,66765159,66765261,65975148,65975250,(GCA)33.3,SBMA_AR,SBMA,+,GCA,GCA,,,,,,"Spinal and bulbar muscular atrophy, Kennedy Disease",AR,,(GCA)*,XR,Coding,Exon 1,9–34,9,34,36-37,36,37,38–68,38,68,34.0,3,"Typical: 20-49 (OMIM), Range: 15-75 (https://doi.org/10.1038/sj.ejhg.5200656) ",15,75,20,49,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,102,313200,1/30000,"1-2/100,000 (population-specific, higher in Finnish population, Canadian population) (PMID: 37628685); 1/30,000  (Orphanet) ; mutation frequency of 1:3182 10x more frequent than reported disease prevalence of 1 in 30,000 (PMID: 36797998); Tang et al., 2017: 0.67-2.5/100,000",AR,AR,NBK1333,1991
+chrX,25013649,25013697,25031766,25031814,24597886,24597934,(GCC)14.7,EIEE1_ARX,EIEE1,-,NGC,NGC,,,,,,Early-infantile epileptic encephalopathy,ARX,,(NGC)*,XR,Coding,Exon 2,10-16,10,16,,,,17-27,17,27,14.7,3,"Typical: 0 (PMID: 21204215, PMID: 9307258, OMIM); Range: 0-4 (Childhood epilepsy, cognitive disability,  ∼70% of cases infantile spasms -->  seizures by 3 or 4 years re: PMID: 19587282)",0,4,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"GeneReviews NBK535148, OMIM",Exon 2 aa 110-115,,43,308350; 300419; 300215,,Unknown,ARX_1,ARX_1,NBK535148,
+chrX,25013530,25013565,25031647,25031682,24597767,24597799,(GGCCGCGGCGGCCGC)2.2,PRTS_ARX,PRTS,-,NGC,NGC,,,,,,Partington syndrome,ARX,,(NGC)*,XR,Coding,Exon 2,12,12,12,,,,20,20,20,12.0,3,"Typical: 1-3; Range: 0-4 (OMIM); Mildness can make diagnosis difficult (particularly mild/absent in females) ",0,4,1,3,ref,Polyalanine,Polyalanine,(OMIM) (doi.org/10.1007/s11604-022-01343-5),"GeneReviews NBK535148, OMIM","Novel, Exon 2 aa 144-155",,35,309510,,Unknown,ARX_2,ARX_2,NBK535148,
+chr12,6936717,6936775,7045880,7045938,6947904,6947941,(CAG)12.7,DRPLA_ATN1,DRPLA,+,CAG,CAG,,,,,,Dentatorubral-Pallidoluysian Atrophy,ATN1,,(CAG)*,AD,Coding,Exon 5,3–35,3,35,,,,48-93,48,93,19.0,3,"Typical: 20-40 (PMID: 6808417, NBK1491)
+Range: 0 (PMID: 11160976) - 72 (NBK1491)",0,72,20,40,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,58,125370,4.5/1000000,"2-7/1,000,000",ATN1,ATN1,NBK1491,1994
+chr6,16327634,16327724,16327865,16327955,16200189,16200282,(TGC)31.1,SCA1_ATXN1,SCA1,-,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 1,ATXN1,,(CTG)*,AD,Coding,Exon 8,6–35,6,35,36-38,36,38,39–91,39,91,30.3,3,Typical: 20-39 (UptoDate); Range: 6(PMID: 3165612)-63 (PMID: 8825276),6,63,20,39,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1184, s40478-021-01201-x",Interruptions: CAT,,90,164400,1.5/100000,"1-2/100,000",ATXN1,ATXN1,NBK1184,1993
+chr12,111598950,111599019,112036754,112036823,111575873,111575940,(GCT)22.3,SCA2_ATXN2,SCA2,-,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 2,ATXN2,,(CTG)*,AD/AR,Coding,Exon 1,14–31,14,31,32-34,32,34,33–200,33,200,23.3,3,Typical: 30-39 (GeneReview); Range: 2-86 (OMIM),2,86,30,39,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, GeneReviews NBK1275, s40478-021-01201-x","29–32 repeats: increased ALS risk, Interruptions: CAA, CGG, CGC. Parkinson disease, late-onset, susceptibility.",,69,183090,1.5/100000,"1-2/100,000 (Tang et al., 2017) (population dependent)",ATXN2,ATXN2,NBK1275,1996
+chr14,92071012,92071053,92537356,92537397,86300520,86300603,(CTG)28.0,SCA3_ATXN3,"SCA3, MJD",-,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 3/Machado-Joseph Disease,ATXN3,,(CTG)*,AD,Coding,Second last exon,12–44,12,44,45-59,45,59,60-87,60,87,14.0,3,Typical: 10-49 (GeneReview); 5-73 (GeneReview; PMID: 30414314),5,73,10,49,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x","""14:92071009-92071042""",,41,109150,2.1/100000,"1–5/100,000, Tang et al., 2017; Most prevalence SCA subtype (NBK557816)",ATXN3,ATXN3,NBK1196,1994
+chr3,63912685,63912716,63898361,63898392,63956303,63956334,(GCA)10.7,SCA7_ATXN7,SCA7,+,CAG,CAG,,,,,,Spinocerebellar Ataxia Type 7,ATXN7,(CAG)n(CCG)4,(CAG)*(CCG)+,AD,Coding,"Exon 1, 2, or 3 (depending on isoform)",4–19,4,19,28-35,28,35,34–460,34,460,10.7,3,Typical: 4-48 (PMID: 20739808); Range: 0-65 (GeneReview),0,65,4,48,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,31,164500,.999/300000,"<1/300,000 (GeneReview)",ATXN7,ATXN7,NBK1256,1996
+chr13,70139383,70139429,70713515,70713561,69361244,69361271,(CTG)9.3,SCA8_ATXN8OS,SCA8,+,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 8,ATXN8OS,(CTA)10(CTG)n,(CTA)*(CTG)*,AD,3' UTR,Exon 5 or 3’ UTR depending on transcript,15–50,15,50,50-70,50,70,71-1300,71,1300,15.3,3,Typical: 20-40; Range: 0-73 (GeneReview),1,73,20,49,ref,"Polyglutamine/toxic gain-of-function; Unknown ","Polyglutamine/toxic gain-of-function; Unknown ",(OMIM) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x","Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS (603680), which, when transcribed, produces a noncoding CUG expansion RNA (Moseley et al., 2006). Roda et al. suggested that the ATXN8 or ATXN8OS gene should not be evaluated in isolation as a candidate gene for spinocerebellar degenerative disease",,46,608768,0.5/100000,"<1/100,000; Tang et al., 2017; Expansion in 1:100-1200 chromosomes (GeneReview)",ATXN8OS,ATXN8OS,NBK1268,1999
+chr19,13207859,13207898,13318673,13318712,13333137,13333176,(CTG)13.3,SCA6_CACNA1A,SCA6,-,CTG,CTG,,,,,,Spinocerebellar Ataxia Type 6,CACNA1A,,(CTG)*,AD,Coding,Last Exon: 47 or 48,4–18,4,18,19,19,19,20–33,20,33,13.3,3,Typical: 43-52 (GeneReview); Range: 16 (PMID: 23331413) - 73 (NBK1140),16,73,43,52,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,39,183086,0.3/100000,"13-15% of global SCA prevalence, estimated to be 0.02-31/100,000 (GeneReview); Tang et al., 2017: 0.3-5/100,000",CACNA1A,CACNA1A,NBK1140,1997
+chr11,119206289,119206322,119076999,119077032,119226663,119226696,(CGG)11.3,JBS_CBL,JBS,+,CGG,CGG,,,,,,Jacobsen syndrome (FRAX11B fragile site),CBL,,(CGG)*,AD,5' UTR,,<79,11,79,,,,>100,100,100,11.3,3,Condition at birth.,0,0,,,ref,,No information found,(OMIM),"https://doi.org/10.1038/s41580-021-00382-6, 7603564 (PubMed)",,,33,147791,,"1/100,000 births; female/male ratio 2:1 (PMID: 19267933); expansion can lead to deletion (shown in 2 cases) but total causality is unclear",CBL,,,
+chr19,18786034,18786049,18896844,18896859,18921630,18921645,,EDM1-PSACH_COMP,"EDM1, PSACH",-,GTC,GTC,,,,,,"Multiple epiphyseal dysplasia, Pseudoachondroplasia",COMP,,(GTC)*,AD,Coding,,5,5,5,,,,4 or 6-7,6,7,5.0,3,"Typical: 0-2 (COMP-PSACH)/ 1-12 (EDM1); Range: 0 (PSACH) - 13 (EDM1); 3-13 specific to trinucleotide expansions (duplications), several contractions but unknown exact AoO",3,13,,,ref,Protein LOF,"LOF, domain dependent",(https://pubmed.ncbi.nlm.nih.gov/29530484/),Pathogenic Short Tandem Repeats Gnomad v3.1.2,"Two diseases, same locus. Both expansions and contractions associated with disease",,15,132400; 177170,,"Specific contribution of COMP repeats to EDM1 is unknown (~300 COMP mutation variants for both phenotypes); likely 1:90,000 prevalence for COMP-PSACH that is repeat-specific.",COMP,COMP,NBK1123; NBK1487,
+chr12,50505002,50505022,50898785,50898805,50468096,50468116,,FRA12A_DIP2B,FRA12A,+,GGC,GGC,,,,,,"Intellectual developmental disorder, FRA12A type",DIP2B,,(GGC)*,AD,5' UTR,,6-23,6,23,~139-206,139,206,~273-306,273,306,7.0,3,Typical: 0-1 (PMID: 3742859); Range: 0-3 (PMID: 4042396),0,3,,,ref,"Increased gene expression, methylation","Increased gene expression, methylation","(OMIM, https://www.medrxiv.org/content/10.1101/2022.09.12.22279739v3.full-text)","OMIM, NBK535148, https://www.medrxiv.org/content/10.1101/2022.09.12.22279739v3.full-text",,,20,136630,,N/A,DIP2B,DIP2B,NBK535148,
+chrX,31284557,31284605,31302674,31302722,30882695,30882743,(TTC)22.7,DMD_DMD,DMD,-,TTC,TTC,,,,,,Duchenne muscular dystrophy,DMD,,(TCC)*,XR,Intronic,,<33,16,33,,,,>59,59,82,16.7,3,Typical: 6-7 (usual disease is 0-3),6,7,6,7,ref,Protein LOF,Functional defect in dystrophin/dystroglycan,(https://doi.org/10.1007/s10038-006-0056-7),PMID: 27417533,,There is conflicting evidence for the association between this repeat expansion and Duchenne muscular dystrophy. The association was reported in a single family (PMID: 27417533). The population frequency of the proposed pathogenic allele is much higher than expected for a highly penetrant early-onset condition.,48,310200,4.8/100000,"Believed to be 0 for disease specific to STR expansion. 1/3500-4700 male births (incidence) for overall DMD (one of the most common and severe congenital myopathies). 4.8/100,000 prevalence PMID: 35168641",DMD,DMD,NBK535148,
+chr19,45770204,45770266,46273462,46273524,48597739,48597756,,DM1_DMPK,DM1,-,CAG,CAG,,,,,,Myotonic Dystrophy Type 1,DMPK,,(CAG)*,AD,3' UTR,Last exon,5–34,5,34,35-49,35,49,50-1000,50,1000,20.7,3,"Typical: 10-30 (""classic"", GeneReview); Range: 0-74 (PMID: 38454488)",0,74,10,30,ref,RNA GOF,RNA gain-of-function - RNA gelation leading to misregulation of alternative splicing,(doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1165, s40478-021-01201-x",Interruptions: CCG,,62,160900,8/100000,"5-20/100,000 (GeneReview); Tang et al., 2017: 0.5-18.1/100,000; 6.5/100,000 (PMID: 31159885) ; 9.27 cases (95% CI: 4.73-15.21) per 100,000, ranging from 0.37 to 36.29 cases per 100,000 (PMID: 35483324)",DMPK,DMPK,NBK1165,1992
+chrX,147912037,147912111,146993555,146993629,146176665,146176769,(GGC)35.0,FXS_FMR1,"FXS, FXTAS, POF1",+,CGG,CGG,,,,,,"Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1",FMR1,,(CGG)*,XD,5' UTR,Exon 2,5–44,5,44,45-200,45,200,200-2000,200,2000,20.6667,3,"Typical: FXS 1 to ""first several yeares of life"", FXTAS 60-65 (GeneReview); Range: 0 (FXS, UptoDate) - 78 (PMID: 17427188)",0,78,1,65,ref,"LOF via decreased gene expression in FXS, GOF in FXTAS",Loss of function via transcriptional silencing in FXSRNA GOF in FXTAS,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, NBK1384","FXTAS/POI 55–200, FXS >200, late onset",,74,300624; 300623,19/100000,"16-25/100,000 males; Tang et al., 2017: known carrier frequency 300-500/100,000 but detected was 11/100,000",FMR1,FMR1,NBK1384,1991
+chr3,138946020,138946062,138664862,138664904,141687014,141687051,(GCGGCTGCAGCCGCA)2.5,BPES_FOXL2,BPES,-,NGC,NGC,,,,,,"Blepharophimosis, epicanthus inversus, and ptosis",FOXL2,,(NGC)*,AD,Coding,Exon 1,<14,14,14,,,,>15,15,15,14.0,3,0 (birth),0,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),NBK535148,,,42,110100,0.31/50000,"1 in 50,000 births globally for all BPES, with FOXL2 expansions 31% of pathogenic variants (NBK1441; NBK535148)",FOXL2,FOXL2,NBK535148,2001
+chr9,69037286,69037304,71652202,71652220,81210843,81210861,(AAG)9.7,FRDA_FXN,FRDA,+,GAA,GAA,,,,,,Friedreich ataxia,FXN,(A)16(GAA)n,(A)*(GAA)*,AR,Intronic,Intron 1,5–33,5,33,34-65,34,65,66 to 1700,66,1700,6.0,3,Typical: 10-15; Range: 2-80 (GeneReview),2,80,10,15,ref,"LOF, reduced gene expression",Loss of function via transcriptional silencing,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148",Not annotated by TRF?,,2,229300,1/50000,"1/50,000 (OMIM); Tang et al., 2017: Known carrier frequency 1000/100,000; observed 421/100,000",FXN,FXN,NBK1281,1996
+chr19,14496041,14496074,14606853,14606886,14622656,14622702,(CCG)15.7,OPDM2_GIPC1,OPDM2,-,CCG,CCG,,,,,,Oculopharyngodistal myopathy,GIPC1,,(CCG)*,AD,5' UTR,Exon 1,6-29,6,29,,,,70-138,70,138,14.7,3,Typical: 20-34 (PMID: 32413282); Range: 14 (PMID: ...282) - 70 (PMID: 33374016),14,70,20,34,ref,RNA toxicity,RNA mediated toxicity hypothesized; unknown,"(OMIM), (doi.org/10.1007/s11604-022-01343-5)","Pathogenic Short Tandem Repeats Gnomad v3.1.2, 32413282 (Pubmed)",,,33,618940,,Population dependent; presumed rare.,GIPC1,GIPC1,NBK535148,2020
+chr2,190880873,190880920,191745599,191745646,191369983,191370024,(GCA)14.0,GDPAG_GLS,GDPAG,+,GCA,GCA,,,,,,Glutaminase deficiency,GLS,,(GCA)*,AR,5' UTR,Exon 1,5-26,5,26,,,,90 - 1500,90,1500,16.0,3,"Early childhood (2-4; PMID: 30970188, 35913761)",2,4,2,4,ref,"Decreased gene expression, methylation",Change in histone modification decreases transcription,(OMIM),"van Kuilenburg 2019 NEJM, 30970188 (Pubmed)",Several compound het cases reported,,47,618412,,"As of 2019, only 7 cases total of GLS deficiency, including non-repeat",GLS,GLS,NBK535148,2019
+chr7,27199678,27199732,27239297,27239351,27335815,27335849,(GCCGCGGCCGCCGCCG)1.9,HFG_HOXA13-III,HFG-III,-,NGC,NGC,,,,,,Hand-foot-genital syndrome 3,HOXA13,,(NGC)*,AD,Coding,Exon 1,8-18,8,18,,,,24-32,24,32,18.0,3,0 (birth),0,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,54,140000,,"""Extremely rare"" (GeneReview)",HOXA13_3,HOXA13_3,NBK1423,2000
+chr7,27199825,27199861,27239444,27239480,27335914,27335954,(GCAGCCGCCGCCGCT)2.9,HFG_HOXA13-II,HFG-II,-,NGC,NGC,,,,,,Hand-foot-genital syndrome 2,HOXA13,,(NGC)*,AD,Coding,Exon 1,12,12,12,,,,18,18,18,12.0,3,0 (birth),0,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2,  NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,36,140000,,"""Extremely rare"" (GeneReview)",HOXA13_2,HOXA13_2,NBK1423,2000
+chr7,27199924,27199966,27239543,27239585,27335920,27335951,(GCAGCCGCCGCCGCT)2.7,HFG_HOXA13-I,HFG-I,-,NGC,NGC,,,,,,Hand-foot-genital syndrome 1,HOXA13,,(NGC)*,AD,Coding,Exon 1,14,14,14,,,,22,22,22,14.0,3,0 (birth),0,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats, Gnomad v3.1.2, NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,42,140000,,"""Extremely rare"" (GeneReview)",HOXA13_1,HOXA13_1,NBK1423,2000
+chr2,176093058,176093103,176957786,176957831,176581179,176581220,(GGC)14.0,SD5_HOXD13,SD5,+,GCN,GCN,,,,,,Syndactyly,HOXD13,,(GCN)*,AD,Coding,Exon 1,< 15,14,15,,,,>22,22,22,14.0,3,0 (birth),0,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,186000,,3 individuals (GeneReview),HOXD13,HOXD13,NBK535148,1996
+chr4,3074877,3074940,3076604,3076667,3073604,3073694,(CAG)30.3,HD_HTT,HD,+,CAG,CAG,,,,,,Huntington disease,HTT,(CAG)nCAACAG(CCG)12,(CAG)*CAACAG(CCG)*,AD,Coding,Exon 1,6–26,6,26,"27-35 unstable, 36-39 reduced penetrance",27,39,40–250 (>60 assocated with onset age <20),40,250,21.3,3,Typical: 35-44 (GeneReview); Range: 2-85 (PMID: 21171977),2,85,35,44,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews, PMID: 12791042",CAG exp only pathogenic. Interruptions impact pathogenicity.,,63,143100,1/10000,"Tang et al., 2017: 6.5-15/100,000; 9.71-17:100,000 (European) vs. 0.1-2/100,000 (African), as many as 1 in 400 have reduced penetrance (0.2-2% for 36-38 CAG) HTT alleles (GeneReview)",HTT,HTT,NBK1305,1993
+chr16,87604283,87604329,87637889,87637935,93675724,93675776,(GCT)17.3,HDL2_JPH3,HDL2,+,CTG,CTG,,,,,,Huntington disease-like 2,JPH3,,(CTG)*,AD,Coding,Exon 2,6–28,6,28,29-39,29,39,40–58,40,58,15.6667,3,Typical: 30-52; Range: 12-66 (GeneReview),12,66,30,52,ref,,"""unstable vertical transmission""",(doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1529",reflen + pos from HipSTR,,46,606438,,"<1/1,000,000 (Orphanet); largely in individuals of African descent",JPH3,JPH3,NBK1529,2001
+chr8,104588972,104588999,105601200,105601227,105716410,105716441,(CGC)10.7,OPDM1_LRP12,OPDM1,-,CGC,CGC,,,,,,Oculopharyngodistal myopathy type 1,LRP12,,(CGC)*,AD,5' UTR,,13-45,13,45,,,,90,90,90,11.7,3,Typical: 31-51 (PMID: 34047774); Range: 7-66 (PMID: 2124290),7,66,31,51,ref,RNA toxicity,RNA mediated toxicity hypothesized; unknown,"(OMIM), (doi.org/10.1007/s11604-022-01343-5)","OMIM 164310, Ishiura et al [2019], Ehdn, NBK535148, PMID 31332380",CGG/CGT,,27,164310,,Population dependent; unknown percentage of LRP12 pathogenic variants.,LRP12,LRP12,NBK535148,2019
+chr15,22786677,22786701,23086366,23086390,20458505,20458536,(GCG)10.7,ALS1_NIPA1,ALS1,+,GCG,GCG,,,,,,Amyotrophic lateral sclerosis,NIPA1,,(GCG)*,AD,Coding,,6-10,6,10,,,,> 11,11,56,10.7,3,Typical: 44-60 (PMID: 26777436); Range: 25 (PMID: 22378146) - 77 (PMID: ...346),25,77,44,60,ref,,No information found,N/A in GeneCard,"Pathogenic Short Tandem Repeats Gnomad v3.1.2, 30342764 (Pubmed), path range from gnomAD",Proposed modifier for ALS,,24,105400,,"2.7-7.4/100,000 (All ALS, not just this locus), NIPA1 + C9orf72 is 0.37% of ALS patients; frequency of NIPA1 expansion in controls is 3.74% (PMID: 31286297)",NIPA1,NIPA1,,
+chr1,149390803,149390842,145209324,145209354,148519696,148519738,(GGC)14.3,NIID_NOTCH2NLC,NIID,+,GGC,GGC,,,,,,"Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype",NOTCH2NLC,,(GGC)*,AD,5' UTR,5' Region,7–39,7,39,,,,66-517,66,517,13.3,3,Typical: 30-70 (OMIM); Range: 10 (PMID: 37090934) - 78 (PMID: 37305750),10,78,30,70,ref,Unknown,May relate to methylation or RNA pathogenicity; Unknown,(OMIM) (doi.org/10.1007/s11604-022-01343-5),"doi: 10.1038/s41588-019-0458-z, https://doi.org/10.1016/j.ajhg.2019.05.013, s40478-021-01201-x","May be issues with parology between genes: C253572.1, NOTCH2, NOTCH2NL, NBPF14, NBPF19 ?? Motif variation in controls: (AGG)(CGG)n(AGG)0-3(CGG)0-2. Methylation involved",Age of onset inversely related to allele size (PMID: 38377026),39,603472,,>400 patients reported in literature (PMID: 37371433),NOTCH2NLC,NOTCH2NLC,NBK535148,2019
+chr10,79826383,79826404,81586139,81586160,80695712,80695748,(GCG)12.7,OPML1_NUTM2B-AS1,OPML1,+,GGC,GGC,,,,,,Oculopharyngeal myopathy with leukoencephalopathy 1,NUTM2B-AS1,,(GGC)*,AD,lncRNA,Exon 1 (noncoding),3-16,3,16,,,,>700,700,700,7.0,3,15-40 (PMID: 31332380; only characterized in one family),15,40,15,40,ref,RNA toxicity,"RNA mediated toxicity hypothesized, unknown",(OMIM) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, Ishiura 2019, doi: 10.1038/s41588-019-0458-z, https://doi.org/10.1038/s41580-021-00382-6","Not in TRF annotation, alt transcript in opposite direction: LOC642361",,21,618637,,"""Rare""",NUTM2B-AS1,NUTM2B-AS1,NBK535148,2019
+chr14,23321472,23321502,23790681,23790711,17522488,17522518,,OPMD_PABPN1,OPMD,+,GCN,GCN,,,,,,Oculopharyngeal muscular dystrophy,PABPN1,,(GCN)*,AD/AR,Coding,Exon 1,10,10,10,,,,12-17,12,17,7.0,3,Typical: 40-59 (PMID: 37519616); Range: 20-79 (PMID: 35112761),20,79,40,59,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, GeneReviews NBK1126, s40478-021-01201-x","AR for 11 repeats, AD >12 repeats. Most known patients have (GCG)+, but GCN or any polyalanine may be pathogenic",,20,164300,1/100000,"Tang et al., 2017: 1/100,000; population specific; frequency of GCN[11] alleles is 1-2% of North America/Europe/Japan (GeneReview)",PABPN1,PABPN1,NBK1126,1998
+chr4,41745972,41746032,41747989,41748049,41719745,41719805,(GCC)15.7,CCHS_PHOX2B,CCHS,-,GCN,GCN,,,,,,Congenital central hypoventilation syndrome,PHOX2B,,(GCN)*,AD,Coding,Exon 3,20,15,20,24,24,24,25-33,25,33,15.7,3,Typical: 0-2 (GeneReview/PMID: 15121777); Range: 0-36 (PMID: 16873766),0,36,0,2,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, GeneReviews NBK1427, s40478-021-01201-x",ReferenceRegion: 4:41745971-41746032,,46,209880,1/174000,"1:148000-200000 births (Estimated, may include mild/undiagnosed or be overestimate globally) (GeneReview)",PHOX2B,PHOX2B,NBK1427,2003
+chr15,89333589,89333629,89876820,89876860,87088412,87088452,(GCT)13.7,CPEO_POLG,CPEO,-,GCT,GCT,,,,,,"Progressive external ophthalmoplegia, Parkinson’s disease",POLG,,(CTG)*TTG(CTG)*,,,,10,10,10,,,,Deviation from 10 may impart disease risk with variable penetrance,,,13.7,3,Typical: 57 (PMID: 20399836) - 59 (PMID: 20826197); Range: 23-87 (PMID: ...836),23,87,57,59,ref,,No information found,N/A in GeneCard,"PMC2905783, PMID: 20399836, PMID: 10196696",Unconfirmed association,There is conflicting evidence for the association between this repeat expansion and Parkinson's risk (PMID: 20399836 and PMID: 10196696). Deviation from 10 may impart disease risk with variable penetrance. May be predisposing factor in earlier age of onset in FRDA patients (PMID: 19043662),40,Disease association unclear,,Unknown,,,,
+chr5,146878728,146878759,146258291,146258322,147414734,147414765,(GCT)15.7,SCA12_PPP2R2B,SCA12,-,GCT,GCT,,,,,,Spinocerebellar ataxia type 12,PPP2R2B,,(GCT)*,AD,Promoter,,4–32,4,32,,,,51–78,51,78,10.7,3,Typical: 26-50; Range: 8-56 (OMIM),8,56,26,50,ref,Unknown,Noted as unknown in literature,"N/A in GeneCard,","Hannan 2018, Mirkin 2007, OMIM, NBK535148, s40478-021-01201-x",(Roda et al. suggested that the ATXN8 or ATXN8OS gene should not be evaluated in isolation as a candidate gene for spinocerebellar degenerative disease),,31,604326,,Unknown. Frequent in India; rare in other places (PMID: 34711523),PPP2R2B,PPP2R2B,NBK535148,1999
+chr9,130681606,130681639,133556993,133557026,142886569,142886595,(CGC)9.0,HSAN-VIII_PRDM12,HSAN VIII,+,GCC,GCC,,,,,,Hereditary sensory and autonomic neuropathy type VIII,PRDM12,,(GCC)*,AR,Coding,Exon,<14,12,14,,,,>18,18,19,12.0,3,0 (birth),0,0,0,0,ref,"LOF, epigenetic","""mutations abrogated the histone-modifying potential of PRDM12, consistent with a loss of function""",OMIM,"Pathogenic Short Tandem Repeats Gnomad v3.1.2, https://doi.org/10.1038/ng.3308",,,33,616488,,"Found in 2 families. All PRDM12 disease mutations < 1/1,000,000",PRDM12,PRDM12,NBK535148,
+chr12,123533720,123533755,124018267,124018302,123532574,123532608,(GGC)11.7,OPDM4_RILPL1,OPDM4,-,GGC,GGC,,,,,,Oculopharyngodistal myopathy type 4,RILPL1,,(GGC)*,AD,5' UTR,,9-16,9,16,,,,139 to 197,139,197,11.7,3,Typical: 18-30 (PMID: 35148830); Range: 10-30 (PMID: 35700120),10,30,18,30,ref,Protein toxic GOF,"toxic gain-of-function mechanism ",(Malacard),Yu 2022 AJHG,toxic poly-glycine protein and/or toxic RNA gain-of-function effects,,35,,,Population dependent. 21.6% of one OPDM cohort (PMID: 35148830),RILPL1,,,2022
+chr6,45422750,45422792,45390487,45390529,45257567,45257611,(GGC)15.0,CCD_RUNX2,CCD,+,GCN,GCN,,,,,,Cleidocranial dysplasia,RUNX2,,(GCN)*,AD,Coding,Exon 3,<17,4,17,,,,>27,27,27,15.0,3,0 (birth) (GeneReview),0,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,42,119600,,"All conditions 1/1,000,000 births (likely underdiagnosed); Utah population frequency 0.12/10,000",RUNX2,RUNX2,NBK1513,1997
+chrX,140504316,140504361,139586481,139586526,138816205,138816239,(GCGGCAGCGGCGGCGG)1.9,XLMR_SOX3,XLMR,-,NGC,NGC,,,,,,"X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone    ",SOX3,,(NGC)*,XR,Coding,Exon 1,< 15,15,15,,,,> 22,22,26,15.0,3,"Typical: 0-3 (PMID: 19654509, PMID: 21289259); Range: 0-9 (PMID: ...509) ",0,9,0,3,ref,Polyalanine,Polyalanine,(doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,300123,,3 families.,SOX3,SOX3,NBK535148,2002
+chr6,170561907,170562017,170870995,170871105,171935459,171935569,(GCA)37.0,SCA17_TBP,SCA17,+,GCA,GCA,,,,,,Spinocerebellar ataxia type 17,TBP,,(GCA)*,AD,Coding,Exon 3,25–40,25,40,41–48,41,48,49 to 66,49,66,37.0,3,Typical: 19-48; Range: 3-62 [has second variant to delay onset] (OMIM),3,62,19,48,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1438","Parkinson disease,late-onset",,110,607136,0.2/100000,"Unknown (global), <100 families, 0.47:1,000,000 (Japanese), 0.16/100,000 (England) (GeneReview); Tang et al., 2017: 0.2/100,000",TBP,TBP,NBK1438,1999
+chr22,19766762,19766807,19754285,19754330,20143615,20143660,,TOF_TBX1,TOF,+,GCN,GCN,,,,,,Tetralogy of Fallot,TBX1,,(GCN)*,AD,Coding,,<15,15,15,,,,>25,25,25,15.0,3,0,0,0,0,0,ref,Polyalanine,Polyalanine,(OMIM),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,187500,,1 individual with STR mutation (GeneReview),TBX1,TBX1,NBK535148,
+chr18,55586155,55586227,53253386,53253458,55789234,55789288,(AGC)18.3,FECD3_TCF4,FECD3,-,CAG,CAG,,,,,,Fuchs endothelial corneal dystrophy 3,TCF4,,(CAG)*,AD,Intronic,Intron 1,10 - 40,10,40,,,,>50,50,150,25.3,3,Typical: 40-59 (PMID: 1676829); Range: 32 (PMID: 21245398) - 70 (PMID: 25168903),32,70,40,59,ref,RNA toxicity proposed,"""sequestration of MBNL1 in RNA foci, similar to the mechanism underlying myotonic dystrophy-1 """,(10.1074/jbc.M114.621607),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,"Penetrance is <100%; reduced penetrance has been reported in individuals with >80 CTG repeats [Wieben et al 2014]. Predominantly in women (~75%) (PMID: 16769829). “Although studies on the prevalence of FECD worldwide are limited, the disorder is thought to be more common in Eurasian populations, with its corneal manifestations documented in 11% of females and 7% of males in Reykjavik, Iceland,3 8.5 % of Singapore Chinese,4 and 5.5% of Japanese.4 (PMID: 25722209)  ",72,613267,4.5/100,~4/100 (over 40) (OMIM); 5/100 (PMID: 20825314),TCF4,TCF4,NBK535148,2015
+chr16,24613439,24613532,24624760,24624853,24890367,24890430,(ATTTT)12.8,FAME6_TNRC6A,FAME6,+,TTTTA,TTTCA,,,,TTTTT,,Familial adult myoclonic epilepsy type 6,TNRC6A,,(TTTTA)*(TTTCA)*(TTTTA)*,AD,Intronic,,0,0,0,,,,">1100, >=10, 29",1100,1100,18.8,3,"Limited clinical details from one family, ""early 20s to 70s""",23,74,23,74,novel,RNA toxicity,RNA toxicity hypothesized,(10.1038/s41588-018-0067-2),"Ishiura 2018; gnomad v3.1.2, 29507423 (Pubmed), https://doi.org/10.1038/s41597-020-00633-9, https://stripy.org/database/TNRC6A","Novel, reported pathogenic alleles: (TTTTA)22 (TTTCA)exp (TTTTA)exp, but only the TTTCA is specific to affected individuals, Alu-associated repeat. Non-pathogenic reference TTTTA repeat was expanded in nine healthy subjects 40-120 repeats and in two individuals potentially even longer (Ishiura et al., 2018).",,93,618074,,"FAME overall is 1/35,000 in Japan",TNRC6A,TNRC6A,NBK535148,2018
+chr16,17470907,17470922,17564764,17564779,17477910,17478013,(GCC)34.7,DBQD2_XYLT1,"DBQD2, BSS",-,GCC,GCC,,,,,,Baratela-Scott Syndrome/Desbuquois dysplasia 2,XYLT1,,(GCC)*,AR,Promoter,Intron 1,<20,0,20,,,,>72,72,110,0.0,3,0 (birth),0,0,0,0,ref,Methylation,Methylation,(doi.org/10.1016/j.ajhg.2018.11.005),"LaCroix 2019, gnomad v3.1.2, 30554721",Repeat is within a sequencing missing from hg38,,1,615777,,"<1 / 1,000,000 births (orphanet); ½ of DBQD variants (GeneReview). <50 DBQD cases",XYLT1,XYLT1,NBK535148,2019
+chr13,99985448,99985493,100637702,100637747,99196359,99196404,(GCG)15.3,HPE5_ZIC2,HPE5,+,GCN,GCN,,,,,,Holoprosencephaly-5,ZIC2,,(GCN)*,AD,Coding,Exon 3,< 15,15,15,,,,>25,25,25,15.3,3,0,0,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,609637,1.4/1000000,"0.05-0.23/100,000; math done by 40% of pathogenic variants in ZIC2 are expansion (GeneReview); 5% of non-syndromic HPE are ZIC2 gene (NBK1530), and nonsyndromic HPE is [25]-50% of HPE, which affects 1/10,000 newborns (Medline non-syndromic HPE) - ZIC2 is 9.2% of HPE cases, whicho ccur in 1/16,000 live births (PMID: 17274816)",ZIC2,ZIC2,NBK1530,2001
+chrX,137566826,137566856,136648985,136649015,135876774,135876800,(CGC)9.0,VACTERLX_ZIC3,VACTERLX,+,GCN,GCN,,,,,,X-linked VACTERL syndrome,ZIC3,,(GCN)*,XR,Coding,,<10,9,10,11,11,11,>12,12,12,9.0,3,0,0,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,30,314390,,"1 patient with VACTERL died at birth. 8 patients with X-linked OAVS at 11 motifs; 1 individual in OAVS cohort with 12 repeats. ",ZIC3,ZIC3,NBK535148,
+chr7,55887601,55887639,55955294,55955332,56047901,56047939,(GCG)15.0,FRA7A_ZNF713,FRA7A,+,GCG,GCG,,,,,,Autism spectrum disorder associated with fragile site FRA7A,ZNF713,,(GCG)*,AD,Intronic,,5-22,5,22,85,85,85,450,450,450,13.0,3,2-3 (four individuals; PMID: 25196122),2,3,2,3,ref,Methylation,Methylation,(OMIM),"OMIM, https://pubmed.ncbi.nlm.nih.gov/25196122/",,,38,616181,,4 individuals,,,,
+chr1,94418422,94418444,94883978,94884000,94266545,94266567,,OPDM_ABCD3,OPDM,+,GCC,GCC,,,,,,Oculopharyngodistal myopathy,ABCD3,,(GCC)*,AD,5'UTR,,3-44,3,44,,,,118-694,118,694,7.7,3,"Typical: 24-30, 10-50 (doi.org/10.1101/2023.10.09.23296582)",10,50,24,30,,,,,https://doi.org/10.1101/2023.10.09.23296582,,,,,,Unknown,,,,2023
+chr13,102161577,102161726,102813927,102814076,101377640,101377789,,SCA27B_FGF14,SCA27B,-,AAG,AAG,,,,,,Spinocerebellar ataxia 27B,FGF14,,(AAG)*,AD,Intronic,Intron 1,8-249,8,249,250-299,250,299,>300,300,637,50.3,3,Typical: 42-70; Range: 21-87 (NBK599589),21,87,42,70,ref,Haploinsufficiency,Reduced transcript 2,PMCID: PMC10042577,"https://www.omim.org/entry/620174, https://www.cell.com/ajhg/fulltext/S0002-9297(22)00506-7, PMCID: PMC10042577, PMID: 37399286","250-300 pathogenic with incomplete penetrance, >300 complete penetrance",Incomplete penetrance.,,620174,,"Intermediate expansions 1-2% of population, but non-GAA-pure without relation to ataxia. (GeneReview)",FGF14,,NBK599589,2023
+chr16,72787695,72787758,72821594,72821657,78605503,78605569,(GCC)22.3,SCA4_ZFHX3,SCA4,-,GCC,GCC,,,,,,Spinocerebellar ataxia 4,ZFHX3,,(GCC)*,AD,Coding,Last Exon,16-26 (majority 21),16,26,,,,46-64,46,64,21.3,3,"Typical: 37- 56; Range: 15 - 60 (PMID: 38035881 - https://doi.org/10.1101/2023.10.03.23296230) ",15,60,37,56,ref,,,,https://doi.org/10.1101/2023.10.03.23296230,,"Expansion found in affected individuals from 3 families and not in any of the 1001 controls. Possible anticipation (PMID: 38197134, PMID: 38035881)",,600223,,Unknown,,,,2023
+chr16,67842863,67842950,67876766,67876853,73638637,73638724,,SCA_THAP11,SCA,+,CAG,CAG,,,,,,Spinocerebellar ataxia,THAP11,,(CAG)*,AD,Coding,Exon 1,20-38,20,38,,,,45-100,45,100,29.3,3,Typical: 8-40; Range: 4-51 (PMID: 37148549),4,51,8,40,ref,PolyQ toxicity,,https://doi.org/10.1002/mds.29412,"https://doi.org/10.1002/mds.29412, https://doi.org/10.1042/ETLS20230018",,"Expansion found in affected individuals from 2 families and not in 500 controls. Longer alleles were associated wither earlier age of onset. For example, an individual with 100 repeats had age of onset at 4 years.",,,,Unknown,,,,2023
+chr3,129172577,129172659,128891420,128891502,131917483,131917557,(CAGG)18.8,DM2_CNBP,DM2,-,CAGG,CAGG,,,,,,Myotonic Dystrophy Type 2,CNBP,(CAGG)n(CAGA)10(CA)19,(CAGG)*(CAGA)*(CA)*,AD,Intronic,,11–26,11,26,27-74,27,74,"75-11,000",75,11000,20.8,4,Typical: 28-56 (PMID: 29086017); Range: 0-73 (PMID: 31159885),0,73,28,56,ref,Aberrant splicing,Aberrant splicing,(doi.org/10.1093/hmg/ddr568),"Hannan 2018, Mirkin 2007, GeneReviews NBK1466, https://doi.org/10.1038/s41580-021-00382-6",(TG)n(TCTG)n(CCTG)n. CCTG expansion causes DM2 but the other repeat units are also variable.,Penetrance is age-dependent and approaches 100%,82,602668,2.29/100000,"2.29/100,000 (PMID: 35483324); population specific prevalence (GeneReview)",CNBP,CNBP,NBK1466,2001
+chr22,45795355,45795424,46191235,46191304,46280060,46280129,(ATTCT)15.0,SCA10_ATXN10,SCA10,+,ATTCT,ATTCT,,,,,,Spinocerebellar Ataxia Type 10,ATXN10,,(ATTCT)*,AD,Intronic,Intron 9/11,10–32,10,32,280-850,280,850,800-4500,800,4500,14.0,5,Typical: 12-48; Range: 11-83 (NBK1175),11,83,12,48,ref,Unknown,Transdominant mechanism theorized,(malacard),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",Interruptions: ATCCT,,69,603516,,Unknown; >300 individuals (GeneReview),ATXN10,ATXN10,,2000
+chr16,66490397,66490466,66524300,66524369,72284667,72284761,(AATAA)19.4,SCA31_BEAN1,SCA31,+,AATAA,"TGGAA,TAGAA",,,,"AAAAA,AAAAC,AAATG,AGAAA,ATAAG,TAAAC,TAACA,TACAA,TCAAA,TGCAA",,Spinocerebellar Ataxia Type 31,BEAN1,,(TGGAA)*(TAGAA)*,AD,Intronic,Intron 4/4,0-10,0,10,,,,>110,110,760,14.4,5,"Typical: 56-62 (PMID: 36563608); Range: 8-83 (PMID: 23331413) ",8,83,56,62,novel,Epigenetic,"Role in heterochromatin or chromosomal structure theorized ",(OMIM),"OMIM, Sato 2009, 19878914 (Pubmed), https://doi.org/10.1038/s41580-021-00382-6","Novel, STR-containing insertion, not present in reference genome: Reds disagree on normal/pathogenic sizes",,69,117210,,Unknown (more common in Japanese pop),BEAN1,BEAN1,NBK535148,2009
+chr1,57367044,57367125,57832716,57832797,57245936,57245977,(AAAAT)8.6,SCA37_DAB1,SCA37,-,AAAAT,GAAAT,,,,AAAAA,,Spinocerebellar Ataxia Type 37,DAB1,,(AAAAT)*(GAAAT)*(AAAAT)*,AD,Intronic,Intron 1 (most isoforms),0-16,0,16,,,,31-75,31,75,16.6,5,Typical: 33-53; Range: 18-64 (GeneReview),18,64,33,53,novel,Protein toxic GOF,toxic gain-of-function mechanism,(OMIM),"Seixas et al 2017 AJHG, NBK541729, s40478-021-01201-x","Novel. Normal: [(ATTTT)7–400] Pathogenic: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90], ATTTC within (ATTTT)7–400 repeat region",,81,615945,,"0.20/100,000 specific to Portugal; not yet found in other geographic regions",DAB1,DAB1,NBK541729,2017
+chr5,10356339,10356411,10356451,10356523,10295521,10295593,(TTTTA)14.8,FAME3_MARCHF6,FAME3,+,TTTTA,TTTCA,,,,"ATGTT,TAGTT,TTTTG,TTTTT",,Familial adult myoclonic epilepsy type 3,MARCHF6,,(TTTTA)*(TTTCA)*,AD,Intronic,Intron 1,0,,,,,,"791-1,035 repeats",791,1035,14.8,5,Typical: 24-41 (PMID: 19616813); Range: 10 (OMIM) - 46 (PMID: 31664039),10,46,24,41,novel,Unknown,Noted as unknown in literature,(OMIM),"Florian, R.T. Nat Comm. 2019",TTTTA + TTTCA,,72,613608,,"Overall FAME prevalence is < 1/35,000; MARCHF6-caused much smaller",MARCHF6,MARCHF6,NBK535148,2019
+chr4,159342527,159342618,160263679,160263770,162693304,162693405,(TTTTA)20.4,FAME7_RAPGEF2,FAME7,+,TTTTA,TTTCA,,,,"TTTTT,TTATG",,Familial adult myoclonic epilepsy type 7,RAPGEF2,,(TTTTA)*(TTTCA)*(TTTTA)*,AD,Intronic,Intron 14,0-1,0,1,,,,>=60,60,60,17.4,5,Typical: 20-33 (PMID: 30351492); Range: 18 (PMID: 29507423) - 37 (PMID: ...492),18,37,20,33,novel,RNA toxicity,RNA toxicity hypothesized,(10.1038/s41588-018-0067-2),"Ishiura 2018, 29507423 (Pubmed), https://sci-hub.hkvisa.net/10.1111/ene.13848","Novel, (TTTTA)exp(TTTCA)exp(TTTTA)n, but only the TTTCA is specific to affected individuals, Alu-associated repeat, incomplete penetrance",,91,618075,,"FAME overall is 1/35,000 in Japan",RAPGEF2,RAPGEF2,NBK535148,2018
+chr4,39348425,39348483,39350045,39350103,39318078,39318136,(AAAAG)11.8,CANVAS_RFC1,CANVAS,-,AAAAG,"AAGGG, ACAGG",,"AAAAG,AAAGG, AAGAG, AGAGG",,"AAAAA,AAAAC,AACGG,AAGAC,AAGGC,AAGGT,AGAAC,AGGGC,AGGGG,GAAAC,GGGAC,GTGAG,AAAAGA,AAAGGA,GGAAAG",,"Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",RFC1,,(AAGGG)*(ACAGG)*,AR,Intronic,Intron 2,0-11,0,11,,,,>400,400,2000,11.8,5,Typical: 36-52; Range: 19-76 (GeneReview),19,76,36,52,novel,,No information found,N/A in GeneCard,"OMIM, Cortese 2019, 30926972 (Pubmed), https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01201-x/tables/1, s40478-021-01201-x, https://www.ncbi.nlm.nih.gov/books/NBK564656/, https://doi.org/10.1101/2023.05.12.540470","Novel, ref is AAAAG(11), path: (AAGGG)400–2000 or (ACAGG)exp","Pathogenic expansions may be flanked by other motifs. For example, (AAAGG)10-25(AAGGG)exp(AAAGG)4-6 (PMID: 32851396). Motif heterogeneity is common in unaffected individuals",58,614575,,"Carrier frequency in European is 0.7-4% and in Chinese Han population is 2.24%; estimated prevalence of 1/20,000 to 1/625 (GeneReview)",RFC1,RFC1,NBK564656,2019
+chr8,118366813,118366918,119379052,119379157,119495248,119495353,(AAATA)21.6,FAME1_SAMD12,FAME1,-,TAAAA,TGAAA,,,,"AAAAA,TAAAC,TAACA,TACAA,TACAC",,Familial adult myoclonic epilepsy type 1,SAMD12,,(TAAAA)*(TGAAA)*(TAAAA)*,AD,Intronic,Intron 4/4,0,0,0,,,,105–3680,105,3680,21.6,5,Typical: 21-39 (PMID 29939203); Range: 12 (PMID: ...203) - 68 (PMID: 29507423),12,68,21,39,novel,RNA toxicity proposed,RNA molecules,(OMIM),Ishiura 2018. https://movementdisorders.onlinelibrary.wiley.com/doi/full/10.1002/mds.27832,"Novel, pathogenic alleles include expansions of TTTTAn + TTTCAn, but only the TTTCA is specific to affected individuals, check reference and pathogenic sites with Stranger. TTTCA within TTTTA repeat region",,105,601068,,"FAME overall is 1/35,000 in Japan",SAMD12,SAMD12,NBK535148,2018
+chr2,96197067,96197121,96862805,96862859,96703675,96703729,(AAAAT)11.6,FAME2_STARD7,FAME2,-,AAAAT,AAATG,,,,"AAAAA,AAAAC,AAACC,AAACG,AAACT,AACTC,AACTG,AATAC,AATAG,ATAAC",,Familial adult myoclonic epilepsy 2,STARD7,,(AAATG)*(AAAAT)*,AD,Intronic,,0,0,0,,,,>274,274,274,11.6,5,Typical: 12-30; Range: 4-60 (PMID: 31664034),4,60,12,30,novel,RNA toxicity,"RNA toxicity ",(10.1038/s41467-019-12671-y),Pathogenic Short Tandem Repeats Gnomad v3.1.2,,,54,607876,,"FAME overall is 1/35,000 in Japan",STARD7,STARD7,NBK535148,2019
+chr3,183712188,183712222,183429976,183430010,186521657,186521706,(ATTTT)10.0,FAME4_YEATS2,FAME4,+,TTTTA,TTTCA,,,,"TTTTT,TGTTA",,Familial adult myoclonic epilepsy 4,YEATS2,,(TTTTA)*(TTTCA)*,AD,Intronic,,0,0,0,,,,>1000,1000,1000,10.0,5,Typical: 20-25 (PMID: 22713812); Range: 10-33 (PMID: 31539032),10,33,20,25,novel,RNA toxicity,RNA toxicity hypothesized,(10.1093/brain/awz267),Pathogenic Short Tandem Repeats Gnomad v3.1.2,,,34,615127,,"FAME overall is 1/35,000 in Japan",YEATS2,YEATS2,NBK535148,2019
+chr9,27573484,27573546,27573482,27573544,27584063,27584155,(GCCCCG)15.8,FTDALS1_C9orf72,FTDALS1,-,GGCCCC,GGCCCC,,,,,,Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS),C9orf72,,(GGCCCC)*,AD,Intronic,Intron 1 or 5' depending on transcript,3–25 (2-19 Reds),2,20,20-60,20,60,250-2000,250,2000,10.8,6,Typical: 50-64; Range: 20-91 (GeneReview),20,91,50,64,ref,RNA toxicity proposed,"""The HRE forms DNA and RNA G-quadruplexes with distinct structures and promotes RNA/DNA hybrids (R-loops). The structural polymorphism causes a repeat length-dependent accumulation of transcripts aborted in the HRE region.""",OMIM,"Hannan 2018, GeneReviews NBK535148, OMIM, s40478-021-01201-x",,,62,105500,,"The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population; overall ALS incidence is 1-2/100,000 person-years, point prevalence is 3-5/100,000 (Europe/US); lifetime risk is 1 in 300 (PMID: 31315673). C9orf72-FTD is estimated to be 0.04-134:100,000 (GeneReview), and by our estimates 0.65-1.56/100,000 for C9orf72-ALS. ",C9ORF72,C9ORF72,NBK268647,2011
+chr20,2652733,2652757,2633379,2633403,2683200,2683224,(GCCTGG)8.8,SCA36_NOP56,SCA36,+,GGCCTG,GGCCTG,,,,,,Spinocerebellar ataxia type 36,NOP56,(GGCCTG)n(CGCCTG)3,(GGCCTG)*(CGCCTG)*,AD,Intronic,Intron 1,3 to 14,3,14,15-649,15,649,650-2500,650,2500,7.2,6,Typical: 40-60 (GeneReview); Range: 28 (PMID: 37810464) - 67 (PMID: 37332636),28,67,40,60,ref,Protein toxic GOF,toxic gain-of-function mechanism,(OMIM),"GeneReviews, OMIM, NBK231880",,,42,614153,,Western Japan: 3.6% of all SCA; Costa da Morte region of Spain: 6.3% of all SCA(PMID: 37332636); US: 0.7% of large undiagnosed ataxia cohort (PMID: 28761930),NOP56,NOP56,,2011
+chr1,1435798,1435818,1371178,1371198,870158,870178,,HMNR7_VWA1,HMNR7,+,GGCGCGGAGC,GGCGCGGAGC,,,,,,"Neuronopathy, distal hereditary motor, autosomal recessive 7",VWA1,,(GGCGCGGAGC)*,AR,Coding,Exon 1,2,2,2,,,,Any deviation from 2,1,3,,10,Typical: 1-3 (PMID: 33559681); Range: 0-10 (OMIM),0,10,1,3,,,,,,,Any deviation from 2 motifs is thought to be pathogenic,,619216,,Biallelic variants found in 0.01% of 100 KGP participants; enriched in those with motor disease. 80% of VWA1 pathogenic variants are expansions/contractions (GeneReview),,VWA1,NBK535148,
+chr21,43776443,43776479,45196324,45196360,42132055,42132091,,EPM1_CSTB,EPM1,-,CGCGGGGCGGGG,CGCGGGGCGGGG,,,,,,Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD),CSTB,,(CGCGGGGCGGGG)*,AR,Promoter,,2-3,2,3,12-17,12,17,>=30,30,81,,12,Typical: 6-15  (GeneReview); Range: 6-16 (PMID: 9012407),6,16,6,15,,,,,"OMIM, https://www.ncbi.nlm.nih.gov/books/NBK1142/, PMID: 9126745",,,,254800,,"Worldwide prevalence unknown; Finland prevalence 2-4/100,000",,CSTB,NBK1142,1997
+chr17,80147059,80147139,78120858,78120938,81047454,81047534,,RCPS_EIF4A3,RCPS,-,CCTCGCTGTGCCGCTGCCGA,CCTCGCTGTGCCGCTGCCGA,,,,,,Richieri-Costa-Pereira syndrome,EIF4A3,,(CCTCGCTGCGCCGCTGCCGA)*(CCTCGCTGTGCCGCTGCCGA)*,AR,5'UTR,,1-9,1,9,10-13,10,13,>14,14,16,,20,0 (birth),0,0,0,0,,,,,https://www.ncbi.nlm.nih.gov/books/NBK535148/,,Complex repeat (GeneReview).,,268305,,49 cases as of Nov 2023 (doi.org/10.1016/j.omsc.2023.100340),,EIF4A3,NBK535148,
+chr20,4699397,4699493,4680043,4680139,4738633,4738705,,CJD_PRNP,CJD,+,GGTGGTGGCTGGGGGCAGCCTCAT,CCTCATGGTGGTGGCTGGGGGCAG,,,,,,Creutzfeldt-Jakob disease,PRNP,(CCTCAGGGCGGTGGTGGCTGGGGGCAG)1(CCTCATGGTGGTGGCTGGGGGCAG)n,(CCTCAGGGCGGTGGTGGCTGGGGGCAG)*(CCTCATGGTGGTGGCTGGGGGCAG)*,AD,Coding,Exon 2,<=4,,4,,,,>=5,5,,,24,Typical: 50-60 (GeneReview); Range: 31-63 (PMID: 37379724),31,63,50,60,,,,,https://www.ncbi.nlm.nih.gov/books/NBK1229/,,,,123400,,"<0.0225/1,000,000: <15% of CJ variants are repeat expansions (NBK535148). 15% newly diagnosed prion disease cases are genetic (GeneReview) 1 individual per million per year worldwide (350 cases annually in US) (PMID: 29939637)
+",,PRNP,NBK1229,
+chrom,start_hg38,stop_hg38,start_hg19,stop_hg19,start_t2t,stop_t2t,notes_t2t,id,disease_id,gene_strand,reference_motif_reference_orientation,pathogenic_motif_reference_orientation,pathogenic_motif_gene_orientation,benign_motif_reference_orientation,benign_motif_gene_orientation,unknown_motif_reference_orientation,unknown_motif_gene_orientation,disease,gene,flank_motif,locus_structure,Inheritance,type,location_in_gene,normal,normal_min,normal_max,intermediate,intermediate_min,intermediate_max,pathogenic,pathogenic_min,pathogenic_max,ref_copies,repeatunitlen,age_onset,age_onset_min,age_onset_max,typ_age_onset_min,typ_age_onset_max,novel,Mechanism,Mechanism_detail,Mechanism_source,source,notes,details,width,OMIM,prevalence,prevalence_details,STRipy_gene,gnomAD_gene,GeneReviews,Year
\ No newline at end of file
diff --git a/data/STR-disease-loci.processed.csv b/data/STR-disease-loci.processed.csv
index 637c26f..5369508 100644
--- a/data/STR-disease-loci.processed.csv
+++ b/data/STR-disease-loci.processed.csv
@@ -1,69 +1,73 @@
-chrom,start_hg38,stop_hg38,start_hg19,stop_hg19,start_t2t,stop_t2t,notes_t2t,id,disease_id,gene_strand,reference_motif_reference_orientation,pathogenic_motif_reference_orientation,pathogenic_motif_gene_orientation,benign_motif_reference_orientation,benign_motif_gene_orientation,unknown_motif_reference_orientation,unknown_motif_gene_orientation,disease,gene,flank_motif,locus_structure,Inheritance,type,location_in_gene,normal,normal_min,normal_max,intermediate,intermediate_min,intermediate_max,pathogenic,pathogenic_min,pathogenic_max,ref_copies,repeatunitlen,age_onset,age_onset_min,age_onset_max,novel,Mechanism,Mechanism_detail,Mechanism_source,source,notes,details,width,OMIM,Incidence,Prevalence,STRipy_gene,gnomAD_gene,GeneReviews,Year
-chrX,148500605,148500753,147582125,147582273,146765191,146765342,(GCC)51.3,FRAXE_AFF2,FRAXE,+,GCC,GCC,CCG,,,,,"Fragile X syndrome, FRAXE type",AFF2,,(GCC)*,XR,5' UTR,5’ Region,4-39,4,39,,,,200-2000,200,2000,50.3,3,2-10,2,10,ref,"LOF, reduced gene expression",Loss of function via transcriptional silencing,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, OMIM, GeneReviews NBK535148",,,148,309548,,Unknown,AFF2,AFF2,NBK535148,1993
-chr2,100104799,100104824,100721261,100721286,100563686,100563738,(GCC)17.7,FRA2A_AFF3,FRA2A,-,GCC,GCC,CGG,,,,,Intellectual disability associated with fragile site FRA2A,AFF3,,(GCC)*,AD,Intronic,Intron ,3-20,3,20,,,,300,300,300,8.7,3,Early childhood,,,ref,"Decreased gene expression, methylation","""silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene""",malacard,"https://doi.org/10.1038/s41580-021-00382-6, PMC3998887","Path threshold may actually be higher than 300, assay was not sensitive enough",,25,601464,,,,,,2014
-chrX,67545317,67545419,66765159,66765261,65975148,65975250,(GCA)33.3,SBMA_AR,SBMA,+,GCA,GCA,AGC,,,,,"Spinal and bulbar muscular atrophy, Kennedy Disease",AR,,(GCA)*,XR,Coding,Exon 1,9–34,9,34,36-37,36,37,38–68,38,68,34.0,3,20-49,20,49,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,102,313200,,"1:300,000 males (SBMA); 1/40,000 (Kennedy Disease)",AR,AR,NBK1333,1991
-chrX,25013649,25013697,25031766,25031814,24597886,24597934,(GCC)14.7,EIEE1_ARX,EIEE1,-,NGC,NGC,CNG,,,,,Early-infantile epileptic encephalopathy,ARX,,(NGC)*,XR,Coding,Exon 2,10-16,10,16,,,,17-27,17,27,14.7,3,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"GeneReviews NBK535148, OMIM",Exon 2 aa 110-115,,43,308350; 300419; 300215,"1-2/100,000","~<1/35,000",ARX_1,ARX_1,NBK535148,
-chrX,25013530,25013565,25031647,25031682,24597767,24597799,(GGCCGCGGCGGCCGC)2.2,PRTS_ARX,PRTS,-,NGC,NGC,CNG,,,,,Partington syndrome,ARX,,(NGC)*,XR,Coding,Exon 2,12,12,12,,,,20,20,20,12.0,3,1-3,1,3,ref,Polyalanine,Polyalanine,(OMIM) (doi.org/10.1007/s11604-022-01343-5),"GeneReviews NBK535148, OMIM","Novel, Exon 2 aa 144-155",,35,309510,,Unknown,ARX_2,ARX_2,NBK535148,
-chr12,6936717,6936775,7045880,7045938,6947904,6947941,(CAG)12.7,DRPLA_ATN1,DRPLA,+,CAG,CAG,AGC,,,,,Dentatorubral-Pallidoluysian Atrophy,ATN1,,(CAG)*,AD,Coding,Exon 5,3–35,3,35,,,,48-93,48,93,19.0,3,1-72,1,72,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,58,125370,,"2-7/1,000,000",ATN1,ATN1,NBK1491,1994
-chr6,16327634,16327724,16327865,16327955,16200189,16200282,(TGC)31.1,SCA1_ATXN1,SCA1,-,CTG,CTG,AGC,,,,,Spinocerebellar Ataxia Type 1,ATXN1,,(CTG)*,AD,Coding,Exon 8,6–35,6,35,36-38,36,38,39–91,39,91,30.3,3,20-40 typical,13,60,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1184, s40478-021-01201-x",Interruptions: CAT,,90,164400,,"1-2/100,000",ATXN1,ATXN1,NBK1184,1993
-chr22,45795355,45795424,46191235,46191304,46280060,46280129,(ATTCT)15.0,SCA10_ATXN10,SCA10,+,ATTCT,ATTCT,ATTCT,,,,,Spinocerebellar Ataxia Type 10,ATXN10,,(ATTCT)*,AD,Intronic,Intron 9/11,10–32,10,32,280-850,280,850,800-4500,800,4500,14.0,5,12-48,12,48,ref,Unknown,Transdominant mechanism theorized,(malacard),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",Interruptions: ATCCT,,69,603516,,Unknown,ATXN10,ATXN10,,2000
-chr12,111598950,111599019,112036754,112036823,111575873,111575940,(GCT)22.3,SCA2_ATXN2,SCA2,-,CTG,CTG,AGC,,,,,Spinocerebellar Ataxia Type 2,ATXN2,,(CTG)*,AD/AR,Coding,Exon 1,14–31,14,31,32-34,32,34,33–200,33,200,23.3,3,30-40 typical,25,50,ref,Polyglutamine ,Polyglutamine ,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, GeneReviews NBK1275, s40478-021-01201-x","29–32 repeats: increased ALS risk, Interruptions: CAA, CGG, CGC. Parkinson disease, late-onset, susceptibility.",,69,183090,,"1-2/100,000 (population dependent)",ATXN2,ATXN2,NBK1275,1996
-chr14,92071012,92071053,92537356,92537397,86300520,86300603,(CTG)28.0,SCA3_ATXN3,"SCA3, MJD",-,CTG,CTG,AGC,,,,,Spinocerebellar Ataxia Type 3/Machado-Joseph Disease,ATXN3,,(CTG)*,AD,Coding,Second last exon,12–44,12,44,45-59,45,59,60-87,60,87,14.0,3,10-50 typical,10,50,ref,Polyglutamine ,Polyglutamine ,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x","""14:92071009-92071042""",,41,109150,,"1–5/100,000",ATXN3,ATXN3,NBK1196,1994
-chr3,63912685,63912716,63898361,63898392,63956303,63956334,(GCA)10.7,SCA7_ATXN7,SCA7,+,CAG,CAG,AGC,,,,,Spinocerebellar Ataxia Type 7,ATXN7,(CAG)n(CCG)4,(CAG)*(CCG)+,AD,Coding,"Exon 1, 2, or 3 (depending on isoform)",4–19,4,19,28-35,28,35,34–460,34,460,10.7,3,0-50,0,50,ref,Polyglutamine ,Polyglutamine ,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,31,164500,,"<1/300,000",ATXN7,ATXN7,NBK1256,1996
-chr13,70139383,70139429,70713515,70713561,69361244,69361271,(CTG)9.3,SCA8_ATXN8OS,SCA8,+,CTG,CTG,CTG,,,,,Spinocerebellar Ataxia Type 8,ATXN8OS,(CTA)10(CTG)n,(CTA)*(CTG)*,AD,3' UTR,Exon 5 or 3’ UTR depending on transcript,15–50,15,50,50-70,50,70,71-1300,71,1300,15.3,3,20-50 typical,1,73,ref,Polyglutamine/toxic gain-of-function; Unknown ,Polyglutamine/toxic gain-of-function; Unknown ,(OMIM) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x","Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS (603680), which, when transcribed, produces a noncoding CUG expansion RNA (Moseley et al., 2006). Roda et al. suggested that the ATXN8 or ATXN8OS gene should not be evaluated in isolation as a candidate gene for spinocerebellar degenerative disease",,46,608768,,"<1/100,000",ATXN8OS,ATXN8OS,NBK1268,1999
-chr16,66490397,66490466,66524300,66524369,72284667,72284761,(AATAA)19.4,SCA31_BEAN1,SCA31,+,AATAA,"TGGAA,TAGAA","AATGG,AATAG",,,"AAAAA,AAAAC,AAATG,AGAAA,ATAAG,TAAAC,TAACA,TACAA,TCAAA,TGCAA","AAAAA,AAAAC,AAATG,AAAAG,AAGAT,AAACT,AACAT,AATAC,AAATC,AATGC",Spinocerebellar Ataxia Type 31,BEAN1,,(TGGAA)*(TAGAA)*,AD,Intronic,Intron 4/4,0-10,0,10,,,,>110,110,760,14.4,5,20-72,20,72,novel,Epigenetic,Role in heterochromatin or chromosomal structure theorized ,(OMIM),"OMIM, Sato 2009, 19878914 (Pubmed), https://doi.org/10.1038/s41580-021-00382-6","Novel, STR-containing insertion, not present in reference genome: Reds disagree on normal/pathogenic sizes",,69,117210,,Unknown (more common in Japanese pop),BEAN1,BEAN1,NBK535148,2009
-chr9,27573484,27573546,27573482,27573544,27584063,27584155,(GCCCCG)15.8,FTDALS1_C9orf72,FTDALS1,-,GGCCCC,GGCCCC,CCGGGG,,,,,Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS),C9orf72,,(GGCCCC)*,AD,Intronic,Intron 1 or 5' depending on transcript,3–25 (2-19 Reds),2,20,20-60,20,60,250-2000,250,2000,10.8,6,27-85,27,85,ref,RNA toxicity proposed,"""The HRE forms DNA and RNA G-quadruplexes with distinct structures and promotes RNA/DNA hybrids (R-loops). The structural polymorphism causes a repeat length-dependent accumulation of transcripts aborted in the HRE region.""",OMIM,"Hannan 2018, GeneReviews NBK535148, OMIM, s40478-021-01201-x",,,62,105500,,The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population,C9ORF72,C9ORF72,NBK268647,2011
-chr19,13207859,13207898,13318673,13318712,13333137,13333176,(CTG)13.3,SCA6_CACNA1A,SCA6,-,CTG,CTG,AGC,,,,,Spinocerebellar Ataxia Type 6,CACNA1A,,(CTG)*,AD,Coding,Last Exon: 47 or 48,4–18,4,18,19,19,19,20–33,20,33,13.3,3,19-73,19,73,ref,Polyglutamine ,Polyglutamine ,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,39,183086,,"<1/1,000,000",CACNA1A,CACNA1A,NBK1140,1997
-chr11,119206289,119206322,119076999,119077032,119226663,119226696,(CGG)11.3,JBS_CBL,JBS,+,CGG,CGG,CGG,,,,,Jacobsen syndrome (FRAX11B fragile site),CBL,,(CGG)*,AD,5' UTR,,<79,11,79,,,,>100,100,100,11.3,3,,0,0,ref,,No information found,(OMIM),"https://doi.org/10.1038/s41580-021-00382-6, 7603564 (PubMed)",,,33,147791,,"1/100,000 births",CBL,,,
-chr19,18786034,18786049,18896844,18896859,18921630,18921645,,EDM1-PSACH_COMP,"EDM1, PSACH",-,GTC,GTC,ACG,,,,,"Multiple epiphyseal dysplasia, Pseudoachondroplasia",COMP,,(GTC)*,AD,Coding,,5,5,5,,,,4 or 6-7,6,7,5.0,3,13,13,13,ref,Protein LOF,"LOF, domain dependent",(https://pubmed.ncbi.nlm.nih.gov/29530484/),Pathogenic Short Tandem Repeats Gnomad v3.1.2,"Two diseases, same locus. Both expansions and contractions associated with disease",,15,132400; 177170,,"9-16/100,000 births",COMP,COMP,NBK1123; NBK1487,
-chr1,57367044,57367125,57832716,57832797,57245936,57245977,(AAAAT)8.6,SCA37_DAB1,SCA37,-,AAAAT,GAAAT,ATTTC,,,AAAAA,TTTTT,Spinocerebellar Ataxia Type 37,DAB1,,(AAAAT)*(GAAAT)*(AAAAT)*,AD,Intronic,Intron 1 (most isoforms),0-16,0,16,,,,31-75,31,75,16.6,5,18-64,18,64,novel,Protein toxic GOF,toxic gain-of-function mechanism,(OMIM),"Seixas et al 2017 AJHG, NBK541729, s40478-021-01201-x","Novel. Normal: [(ATTTT)7–400] Pathogenic: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90], ATTTC within (ATTTT)7–400 repeat region",,81,615945,,"<1/1,000,000",DAB1,DAB1,NBK541729,2017
-chr12,50505002,50505022,50898785,50898805,50468096,50468116,,FRA12A_DIP2B,FRA12A,+,GGC,GGC,CGG,,,,,"Intellectual developmental disorder, FRA12A type",DIP2B,,(GGC)*,AD,5' UTR,,6-23,6,23,~139-206,139,206,~273-306,273,306,7.0,3,,1,1,ref,"Increased gene expression, methylation","Increased gene expression, methylation","(OMIM, https://www.medrxiv.org/content/10.1101/2022.09.12.22279739v3.full-text)","OMIM, NBK535148, https://www.medrxiv.org/content/10.1101/2022.09.12.22279739v3.full-text",,,20,136630,,,DIP2B,DIP2B,NBK535148,
-chrX,31284557,31284605,31302674,31302722,30882695,30882743,(TTC)22.7,DMD_DMD,DMD,-,TTC,TTC,AAG,,,,,Duchenne muscular dystrophy,DMD,,(TCC)*,XR,Intronic,,<33,16,33,,,,>59,59,82,16.7,3,dependent on repeat number (birth to adulthood),0,3,ref,Protein LOF,Functional defect in dystrophin/dystroglycan,(https://doi.org/10.1007/s10038-006-0056-7),PMID: 27417533,,There is conflicting evidence for the association between this repeat expansion and Duchenne muscular dystrophy. The association was reported in a single family (PMID: 27417533). The population frequency of the proposed pathogenic allele is much higher than expected for a highly penetrant early-onset condition.,48,310200,,,DMD,DMD,NBK535148,
-chr19,45770204,45770266,46273462,46273524,48597739,48597756,,DM1_DMPK,DM1,-,CAG,CAG,CTG,,,,,Myotonic Dystrophy Type 1,DMPK,,(CAG)*,AD,3' UTR,Last exon,5–34,5,34,35-49,35,49,50-1000,50,1000,20.7,3,"0-30, mild up to 70",0,70,ref,RNA GOF,RNA gain-of-function - RNA gelation leading to misregulation of alternative splicing,(doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1165, s40478-021-01201-x",Interruptions: CCG,,62,160900,,"5-20/100,000",DMPK,DMPK,NBK1165,1992
-chrX,147912037,147912111,146993555,146993629,146176665,146176769,(GGC)35.0,FXS_FMR1,"FXS, FXTAS, POF1",+,CGG,CGG,CGG,,,,,"Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1",FMR1,,(CGG)*,XD,5' UTR,Exon 2,5–44,5,44,45-200,45,200,200-2000,200,2000,20.6667,3,"FXS 2, FXTAS 60-65",2,65,ref,"LOF via decreased gene expression in FXS, GOF in FXTAS",Loss of function via transcriptional silencing in FXSRNA GOF in FXTAS,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, NBK1384","FXTAS/POI 55–200, FXS >200, late onset",,74,300624; 300623,,"16-25/100,000 males",FMR1,FMR1,NBK1384,1991
-chr3,138946020,138946062,138664862,138664904,141687014,141687051,(GCGGCTGCAGCCGCA)2.5,BPES_FOXL2,BPES,-,NGC,NGC,CNG,,,,,"Blepharophimosis, epicanthus inversus, and ptosis",FOXL2,,(NGC)*,AD,Coding,Exon 1,<14,14,14,,,,>15,15,15,14.0,3,"0, can have infertility in childbearing age",0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),NBK535148,,,42,110100,,"1 in 50,000 births globally",FOXL2,FOXL2,NBK535148,2001
-chr9,69037286,69037304,71652202,71652220,81210843,81210861,(AAG)9.7,FRDA_FXN,FRDA,+,GAA,GAA,AAG,,,,,Friedreich ataxia,FXN,(A)16(GAA)n,(A)*(GAA)*,AR,Intronic,Intron 1,5–33,5,33,34-65,34,65,66 to 1700,66,1700,6.0,3,5-25,5,25,ref,"LOF, reduced gene expression",Loss of function via transcriptional silencing,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148",Not annotated by TRF?,,2,229300,,"1/50,000 (US), 1/40,000 (global)",FXN,FXN,NBK1281,1996
-chr19,14496041,14496074,14606853,14606886,14622656,14622702,(CCG)15.7,OPDM2_GIPC1,OPDM2,-,CCG,CCG,CGG,,,,,Oculopharyngodistal myopathy,GIPC1,,(CCG)*,AD,5' UTR,Exon 1,6-29,6,29,,,,70-138,70,138,14.7,3,10-29,10,29,ref,RNA toxicity,RNA mediated toxicity hypothesized; unknown,"(OMIM), (doi.org/10.1007/s11604-022-01343-5)","Pathogenic Short Tandem Repeats Gnomad v3.1.2, 32413282 (Pubmed)",,,33,618940,,Population dependent,GIPC1,GIPC1,NBK535148,2020
-chr2,190880873,190880920,191745599,191745646,191369983,191370024,(GCA)14.0,GDPAG_GLS,GDPAG,+,GCA,GCA,AGC,,,,,Glutaminase deficiency,GLS,,(GCA)*,AR,5' UTR,Exon 1,5-26,5,26,,,,90 - 1500,90,1500,16.0,3,Early childhood,0,1,ref,"Decreased gene expression, methylation",Change in histone modification decreases transcription,(OMIM),"van Kuilenburg 2019 NEJM, 30970188 (Pubmed)",Several compound het cases reported,,47,618412,,"As of 2019, only 7 cases",GLS,GLS,NBK535148,2019
-chr7,27199678,27199732,27239297,27239351,27335815,27335849,(GCCGCGGCCGCCGCCG)1.9,HFG_HOXA13-III,HFG-III,-,NGC,NGC,CNG,,,,,Hand-foot-genital syndrome 3,HOXA13,,(NGC)*,AD,Coding,Exon 1,8-18,8,18,,,,24-32,24,32,18.0,3,0,0,0,ref,Polyalanine ,Polyalanine ,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,54,140000,,Rare,HOXA13_3,HOXA13_3,NBK1423,2000
-chr7,27199825,27199861,27239444,27239480,27335914,27335954,(GCAGCCGCCGCCGCT)2.9,HFG_HOXA13-II,HFG-II,-,NGC,NGC,CNG,,,,,Hand-foot-genital syndrome 2,HOXA13,,(NGC)*,AD,Coding,Exon 1,12,12,12,,,,18,18,18,12.0,3,0,0,0,ref,Polyalanine ,Polyalanine ,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2,  NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,36,140000,,Rare,HOXA13_2,HOXA13_2,NBK1423,2000
-chr7,27199924,27199966,27239543,27239585,27335920,27335951,(GCAGCCGCCGCCGCT)2.7,HFG_HOXA13-I,HFG-I,-,NGC,NGC,CNG,,,,,Hand-foot-genital syndrome 1,HOXA13,,(NGC)*,AD,Coding,Exon 1,14,14,14,,,,22,22,22,14.0,3,0,0,0,ref,Polyalanine ,Polyalanine ,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats, Gnomad v3.1.2, NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,42,140000,,Rare,HOXA13_1,HOXA13_1,NBK1423,2000
-chr2,176093058,176093103,176957786,176957831,176581179,176581220,(GGC)14.0,SD5_HOXD13,SD5,+,GCN,GCN,CNG,,,,,Syndactyly,HOXD13,,(GCN)*,AD,Coding,Exon 1,< 15,14,15,,,,>22,22,22,14.0,3,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,186000,,Unknown,HOXD13,HOXD13,NBK535148,1996
-chr4,3074877,3074940,3076604,3076667,3073604,3073694,(CAG)30.3,HD_HTT,HD,+,CAG,CAG,AGC,,,,,Huntington disease,HTT,(CAG)nCAACAG(CCG)12,(CAG)*CAACAG(CCG)*,AD,Coding,Exon 1,6–26,6,26,"27-35 unstable, 36-39 reduced penetrance",27,39,40–250 (>60 assocated with onset age <20),40,250,21.3,3,35-44,3,70,ref,Polyglutamine ,Polyglutamine ,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews, PMID: 12791042",CAG exp only pathogenic. Interruptions impact pathogenicity.,,63,143100,,"1/10,000",HTT,HTT,NBK1305,1993
-chr16,87604283,87604329,87637889,87637935,93675724,93675776,(GCT)17.3,HDL2_JPH3,HDL2,+,CTG,CTG,CTG,,,,,Huntington disease-like 2,JPH3,,(CTG)*,AD,Coding,Exon 2,6–28,6,28,29-39,29,39,40–58,40,58,15.6667,3,12-66,12,66,ref,,"""unstable vertical transmission""",(doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1529",reflen + pos from HipSTR,,46,606438,,"<1/1,000,000",JPH3,JPH3,NBK1529,2001
-chr8,104588972,104588999,105601200,105601227,105716410,105716441,(CGC)10.7,OPDM1_LRP12,OPDM1,-,CGC,CGC,CGG,,,,,Oculopharyngodistal myopathy type 1,LRP12,,(CGC)*,AD,5' UTR,,13-45,13,45,,,,90,90,90,11.7,3,"Adult onset, variable (mean 22.1 in one study)",7,50,ref,RNA toxicity,RNA mediated toxicity hypothesized; unknown,"(OMIM), (doi.org/10.1007/s11604-022-01343-5)","OMIM 164310, Ishiura et al [2019], Ehdn, NBK535148, PMID 31332380",CGG/CGT,,27,164310,,Population dependent,LRP12,LRP12,NBK535148,2019
-chr5,10356339,10356411,10356451,10356523,10295521,10295593,(TTTTA)14.8,FAME3_MARCHF6,FAME3,+,TTTTA,TTTCA,ATTTC,,,"ATGTT,TAGTT,TTTTG,TTTTT","ATGTT,AGTTT,GTTTT,TTTTT",Familial adult myoclonic epilepsy type 3,MARCHF6,,(TTTTA)*(TTTCA)*,AD,Intronic,Intron 1,0,,,,,,"791-1,035 repeats",791,1035,14.8,5,10-40,10,40,novel,Unknown,Noted as unknown in literature,(OMIM),"Florian, R.T. Nat Comm. 2019",TTTTA + TTTCA,,72,613608,,"~<1/35,000",MARCHF6,MARCHF6,NBK535148,2019
-chr15,22786677,22786701,23086366,23086390,20458505,20458536,(GCG)10.7,ALS1_NIPA1,ALS1,+,GCG,GCG,CGG,,,,,Amyotrophic lateral sclerosis,NIPA1,,(GCG)*,AD,Coding,,6-10,6,10,,,,> 11,11,56,10.7,3,"Variable, 19-46 familial",19,46,ref,,No information found,N/A in GeneCard,"Pathogenic Short Tandem Repeats Gnomad v3.1.2, 30342764 (Pubmed), path range from gnomAD",Proposed modifier for ALS,,24,105400,"1.5-4.7 per 100,000 person-years (All ALS, Europe/NA)","2.7-7.4/100,000 (All ALS, not just this locus)",NIPA1,NIPA1,,
-chr20,2652733,2652757,2633379,2633403,2683200,2683224,(GCCTGG)8.8,SCA36_NOP56,SCA36,+,GGCCTG,GGCCTG,CCTGGG,,,,,Spinocerebellar ataxia type 36,NOP56,(GGCCTG)n(CGCCTG)3,(GGCCTG)*(CGCCTG)*,AD,Intronic,Intron 1,3 to 14,3,14,15-649,15,649,650-2500,650,2500,7.2,6,~52 (mean),48,57,ref,Protein toxic GOF,toxic gain-of-function mechanism,(OMIM),"GeneReviews, OMIM, NBK231880",,,42,614153,,Unknown,NOP56,NOP56,,2011
-chr1,149390803,149390842,145209324,145209354,148519696,148519738,(GGC)14.3,NIID_NOTCH2NLC,NIID,+,GGC,GGC,CGG,,,,,"Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype",NOTCH2NLC,,(GGC)*,AD,5' UTR,5' Region,7–39,7,39,,,,66-517,66,517,13.3,3,16-76,16,76,ref,Unknown,May relate to methylation or RNA pathogenicity; Unknown,(OMIM) (doi.org/10.1007/s11604-022-01343-5),"doi: 10.1038/s41588-019-0458-z, https://doi.org/10.1016/j.ajhg.2019.05.013, s40478-021-01201-x","May be issues with parology between genes: C253572.1, NOTCH2, NOTCH2NL, NBPF14, NBPF19 ?? Motif variation in controls: (AGG)(CGG)n(AGG)0-3(CGG)0-2. Methylation involved",,39,603472,,Unknown,NOTCH2NLC,NOTCH2NLC,NBK535148,2019
-chr10,79826383,79826404,81586139,81586160,80695712,80695748,(GCG)12.7,OPML1_NUTM2B-AS1,OPML1,+,GGC,GGC,CGG,,,,,Oculopharyngeal myopathy with leukoencephalopathy 1,NUTM2B-AS1,,(GGC)*,AD,lncRNA,Exon 1 (noncoding),3-16,3,16,,,,>700,700,700,7.0,3,,15,40,ref,RNA toxicity,"RNA mediated toxicity hypothesized, unknown",(OMIM) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, Ishiura 2019, doi: 10.1038/s41588-019-0458-z, https://doi.org/10.1038/s41580-021-00382-6","Not in TRF annotation, alt transcript in opposite direction: LOC642361",,21,618637,,Couldn't find,NUTM2B-AS1,NUTM2B-AS1,NBK535148,2019
-chr14,23321472,23321502,23790681,23790711,17522488,17522518,,OPMD_PABPN1,OPMD,+,GCN,GCN,CNG,,,,,Oculopharyngeal muscular dystrophy,PABPN1,,(GCN)*,AD/AR,Coding,Exon 1,10,10,10,,,,12-17,12,17,7.0,3,26-65,26,65,ref,Polyalanine ,Polyalanine ,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, GeneReviews NBK1126, s40478-021-01201-x","AR for 11 repeats, AD >12 repeats. Most known patients have (GCG)+, but GCN or any polyalanine may be pathogenic",,20,164300,,"1/100,000 Western countries",PABPN1,PABPN1,NBK1126,1998
-chr4,41745972,41746032,41747989,41748049,41719745,41719805,(GCC)15.7,CCHS_PHOX2B,CCHS,-,GCN,GCN,CNG,,,,,Congenital central hypoventilation syndrome,PHOX2B,,(GCN)*,AD,Coding,Exon 3,20,15,20,24,24,24,25-33,25,33,15.7,3,0-20,0,20,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, GeneReviews NBK1427, s40478-021-01201-x",ReferenceRegion: 4:41745971-41746032,,46,209880,,1:148000-200000 births (Estimated),PHOX2B,PHOX2B,NBK1427,2003
-chr15,89333589,89333629,89876820,89876860,87088412,87088452,(GCT)13.7,CPEO_POLG,CPEO,-,GCT,GCT,AGC,,,,,"Progressive external ophthalmoplegia, Parkinson’s disease",POLG,,(CTG)*TTG(CTG)*,,,,10,10,10,,,,Deviation from 10 may impart disease risk with variable penetrance,,,13.7,3,23-87,23,87,ref,,No information found,N/A in GeneCard,"PMC2905783, PMID: 20399836, PMID: 10196696",Unconfirmed association,There is conflicting evidence for the association between this repeat expansion and Parkinson's risk (PMID: 20399836 and PMID: 10196696). Deviation from 10 may impart disease risk with variable penetrance.,40,Disease association unclear,,,,,,
-chr5,146878728,146878759,146258291,146258322,147414734,147414765,(GCT)15.7,SCA12_PPP2R2B,SCA12,-,GCT,GCT,AGC,,,,,Spinocerebellar ataxia type 12,PPP2R2B,,(GCT)*,AD,Promoter,,4–32,4,32,,,,51–78,51,78,10.7,3,8-55,8,55,ref,Unknown,Noted as unknown in literature,"N/A in GeneCard,","Hannan 2018, Mirkin 2007, OMIM, NBK535148, s40478-021-01201-x",(Roda et al. suggested that the ATXN8 or ATXN8OS gene should not be evaluated in isolation as a candidate gene for spinocerebellar degenerative disease),,31,604326,,Unknown,PPP2R2B,PPP2R2B,NBK535148,1999
-chr9,130681606,130681639,133556993,133557026,142886569,142886595,(CGC)9.0,HSAN-VIII_PRDM12,HSAN VIII,+,GCC,GCC,CCG,,,,,Hereditary sensory and autonomic neuropathy type VIII,PRDM12,,(GCC)*,AR,Coding,Exon,<14,12,14,,,,>18,18,19,12.0,3,0,0,0,ref,"LOF, epigenetic","""mutations abrogated the histone-modifying potential of PRDM12, consistent with a loss of function""",OMIM,"Pathogenic Short Tandem Repeats Gnomad v3.1.2, https://doi.org/10.1038/ng.3308",,,33,616488,,"<1/1,000,000",PRDM12,PRDM12,NBK535148,
-chr4,159342527,159342618,160263679,160263770,162693304,162693405,(TTTTA)20.4,FAME7_RAPGEF2,FAME7,+,TTTTA,TTTCA,ATTTC,,,"TTTTT,TTATG","TTTTT,ATGTT",Familial adult myoclonic epilepsy type 7,RAPGEF2,,(TTTTA)*(TTTCA)*(TTTTA)*,AD,Intronic,Intron 14,0-1,0,1,,,,>=60,60,60,17.4,5,"~18, 23-37",18,37,novel,RNA toxicity,RNA toxicity hypothesized,(10.1038/s41588-018-0067-2),"Ishiura 2018, 29507423 (Pubmed), https://sci-hub.hkvisa.net/10.1111/ene.13848","Novel, (TTTTA)exp(TTTCA)exp(TTTTA)n, but only the TTTCA is specific to affected individuals, Alu-associated repeat, incomplete penetrance",,91,618075,,"~<1/35,000",RAPGEF2,RAPGEF2,NBK535148,2018
-chr4,39348425,39348483,39350045,39350103,39318078,39318136,(AAAAG)11.8,CANVAS_RFC1,CANVAS,-,AAAAG,"AAGGG, ACAGG","CCCTT,CCTGT","AAAAG,AAAGG, AAGAG, AGAGG","CTTTT,CCTTT,CTCTT,CCTCT","AAAAA,AAAAC,AACGG,AAGAC,AAGGC,AAGGT,AGAAC,AGGGC,AGGGG,GAAAC,GGGAC,GTGAG,AAAAGA,AAAGGA,GGAAAG","TTTTT,GTTTT,CCGTT,CTTGT,CCTTG,ACCTT,CTGTT,CCCTG,CCCCT,CGTTT,CCCGT,ACCTC,CTTTTT,CCTTTT,CCCTTT","Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",RFC1,,(AAGGG)*(ACAGG)*,AR,Intronic,Intron 2,0-11,0,11,,,,>400,400,2000,11.8,5,33-71,33,71,novel,,No information found,N/A in GeneCard,"OMIM, Cortese 2019, 30926972 (Pubmed), https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01201-x/tables/1, s40478-021-01201-x, https://www.ncbi.nlm.nih.gov/books/NBK564656/, https://doi.org/10.1101/2023.05.12.540470","Novel, ref is AAAAG(11), path: (AAGGG)400–2000 or (ACAGG)exp","Pathogenic expansions may be flanked by other motifs. For example, (AAAGG)10-25(AAGGG)exp(AAAGG)4-6 (PMID: 32851396). Motif heterogeneity is common in unaffected individuals",58,614575,,"Unknown, <1/1,000,000",RFC1,RFC1,NBK564656,2019
-chr12,123533720,123533755,124018267,124018302,123532574,123532608,(GGC)11.7,OPDM4_RILPL1,OPDM4,-,GGC,GGC,CCG,,,,,Oculopharyngodistal myopathy type 4,RILPL1,,(GGC)*,AD,5' UTR,,9-16,9,16,,,,139 to 197,139,197,11.7,3,,14,27,ref,Protein toxic GOF,toxic gain-of-function mechanism ,(Malacard),Yu 2022 AJHG,toxic poly-glycine protein and/or toxic RNA gain-of-function effects,,35,,,Population dependent,RILPL1,,,2022
-chr6,45422750,45422792,45390487,45390529,45257567,45257611,(GGC)15.0,CCD_RUNX2,CCD,+,GCN,GCN,CNG,,,,,Cleidocranial dysplasia,RUNX2,,(GCN)*,AD,Coding,Exon 3,<17,4,17,,,,>27,27,27,15.0,3,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,42,119600,,"1/1,000,000 births (likely underdiagnosed)",RUNX2,RUNX2,NBK1513,1997
-chr8,118366813,118366918,119379052,119379157,119495248,119495353,(AAATA)21.6,FAME1_SAMD12,FAME1,-,TAAAA,TGAAA,ATTTC,,,"AAAAA,TAAAC,TAACA,TACAA,TACAC","TTTTT,AGTTT,ATGTT,ATTGT,AGTGT",Familial adult myoclonic epilepsy type 1,SAMD12,,(TAAAA)*(TGAAA)*(TAAAA)*,AD,Intronic,Intron 4/4,0,0,0,,,,105–3680,105,3680,21.6,5,18-50,18,50,novel,RNA toxicity proposed,RNA molecules,(OMIM),Ishiura 2018. https://movementdisorders.onlinelibrary.wiley.com/doi/full/10.1002/mds.27832,"Novel, pathogenic alleles include expansions of TTTTAn + TTTCAn, but only the TTTCA is specific to affected individuals, check reference and pathogenic sites with Stranger. TTTCA within TTTTA repeat region",,105,601068,,"~<1/35,000",SAMD12,SAMD12,NBK535148,2018
-chrX,140504316,140504361,139586481,139586526,138816205,138816239,(GCGGCAGCGGCGGCGG)1.9,XLMR_SOX3,XLMR,-,NGC,NGC,CNG,,,,,X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone    ,SOX3,,(NGC)*,XR,Coding,Exon 1,< 15,15,15,,,,> 22,22,26,15.0,3,Infancy - childhood,0,9,ref,Polyalanine,Polyalanine,(doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,300123,,,SOX3,SOX3,NBK535148,2002
-chr2,96197067,96197121,96862805,96862859,96703675,96703729,(AAAAT)11.6,FAME2_STARD7,FAME2,-,AAAAT,AAATG,ATTTC,,,"AAAAA,AAAAC,AAACC,AAACG,AAACT,AACTC,AACTG,AATAC,AATAG,ATAAC","TTTTT,GTTTT,GGTTT,CGTTT,AGTTT,AGTTG,AGTTC,ATTGT,ATTCT,ATGTT",Familial adult myoclonic epilepsy 2,STARD7,,(AAATG)*(AAAAT)*,AD,Intronic,,0,0,0,,,,>274,274,274,11.6,5,mean 25,5,60,novel,RNA toxicity,RNA toxicity ,(10.1038/s41467-019-12671-y),Pathogenic Short Tandem Repeats Gnomad v3.1.2,,,54,607876,,"~<1/35,000",STARD7,STARD7,NBK535148,2019
-chr6,170561907,170562017,170870995,170871105,171935459,171935569,(GCA)37.0,SCA17_TBP,SCA17,+,GCA,GCA,AGC,,,,,Spinocerebellar ataxia type 17,TBP,,(GCA)*,AD,Coding,Exon 3,25–40,25,40,41–48,41,48,49 to 66,49,66,37.0,3,Most >30,3,55,ref,Polyglutamine ,Polyglutamine ,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1438","Parkinson disease,late-onset",,110,607136,,"Unknown (global), 0.47:1,000,000 (Japanese)",TBP,TBP,NBK1438,1999
-chr22,19766762,19766807,19754285,19754330,20143615,20143660,,TOF_TBX1,TOF,+,GCN,GCN,CNG,,,,,Tetralogy of Fallot,TBX1,,(GCN)*,AD,Coding,,<15,15,15,,,,>25,25,25,15.0,3,0,0,0,ref,Polyalanine,Polyalanine,(OMIM),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,187500,,Unknown for specific gene,TBX1,TBX1,NBK535148,
-chr18,55586155,55586227,53253386,53253458,55789234,55789288,(AGC)18.3,FECD3_TCF4,FECD3,-,CAG,CAG,CTG,,,,,Fuchs endothelial corneal dystrophy 3,TCF4,,(CAG)*,AD,Intronic,Intron 1,10 - 40,10,40,,,,>50,50,150,25.3,3,~40,32,70,ref,RNA toxicity proposed,"""sequestration of MBNL1 in RNA foci, similar to the mechanism underlying myotonic dystrophy-1 """,(10.1074/jbc.M114.621607),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,72,613267,,~4/100 (over 40),TCF4,TCF4,NBK535148,2015
-chr16,24613439,24613532,24624760,24624853,24890367,24890430,(ATTTT)12.8,FAME6_TNRC6A,FAME6,+,TTTTA,TTTCA,ATTTC,,,TTTTT,TTTTT,Familial adult myoclonic epilepsy type 6,TNRC6A,,(TTTTA)*(TTTCA)*(TTTTA)*,AD,Intronic,,0,0,0,,,,">1100, >=10, 29",1100,1100,18.8,3,20s-70s,20,70,novel,RNA toxicity,RNA toxicity hypothesized,(10.1038/s41588-018-0067-2),"Ishiura 2018; gnomad v3.1.2, 29507423 (Pubmed), https://doi.org/10.1038/s41597-020-00633-9, https://stripy.org/database/TNRC6A","Novel, reported pathogenic alleles: (TTTTA)22 (TTTCA)exp (TTTTA)exp, but only the TTTCA is specific to affected individuals, Alu-associated repeat. Non-pathogenic reference TTTTA repeat was expanded in nine healthy subjects 40-120 repeats and in two individuals potentially even longer (Ishiura et al., 2018).",,93,618074,,"~<1/35,000",TNRC6A,TNRC6A,NBK535148,2018
-chr16,17470907,17470922,17564764,17564779,17477910,17478013,(GCC)34.7,DBQD2_XYLT1,"DBQD2, BSS",-,GCC,GCC,CGG,,,,,Baratela-Scott Syndrome/Desbuquois dysplasia 2,XYLT1,,(GCC)*,AR,Promoter,Intron 1,<20,0,20,,,,>72,72,110,0.0,3,0,0,0,ref,Methylation,Methylation,(doi.org/10.1016/j.ajhg.2018.11.005),"LaCroix 2019, gnomad v3.1.2, 30554721",Repeat is within a sequencing missing from hg38,,1,615777,,"<1 / 1,000,000 births",XYLT1,XYLT1,NBK535148,2019
-chr3,183712188,183712222,183429976,183430010,186521657,186521706,(ATTTT)10.0,FAME4_YEATS2,FAME4,+,TTTTA,TTTCA,ATTTC,,,"TTTTT,TGTTA","TTTTT,ATGTT",Familial adult myoclonic epilepsy 4,YEATS2,,(TTTTA)*(TTTCA)*,AD,Intronic,,0,0,0,,,,>1000,1000,1000,10.0,5,19.5 years (range 10-33) for tremor and 25 years (range 19-33) for seizures,10,33,novel,RNA toxicity,RNA toxicity hypothesized,(10.1093/brain/awz267),Pathogenic Short Tandem Repeats Gnomad v3.1.2,,,34,615127,,"~<1/35,000",YEATS2,YEATS2,NBK535148,2019
-chr13,99985448,99985493,100637702,100637747,99196359,99196404,(GCG)15.3,HPE5_ZIC2,HPE5,+,GCN,GCN,CNG,,,,,Holoprosencephaly-5,ZIC2,,(GCN)*,AD,Coding,Exon 3,< 15,15,15,,,,>25,25,25,15.3,3,0,0,0,ref,Polyalanine ,Polyalanine ,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,609637,,Unknown ZIC2 specific,ZIC2,ZIC2,NBK535148,2001
-chrX,137566826,137566856,136648985,136649015,135876774,135876800,(CGC)9.0,VACTERLX_ZIC3,VACTERLX,+,GCN,GCN,CNG,,,,,X-linked VACTERL syndrome,ZIC3,,(GCN)*,XR,Coding,,<10,9,10,11,11,11,>12,12,12,9.0,3,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,30,314390,,Unknown,ZIC3,ZIC3,NBK535148,
-chr7,55887601,55887639,55955294,55955332,56047901,56047939,(GCG)15.0,FRA7A_ZNF713,FRA7A,+,GCG,GCG,CGG,,,,,Autism spectrum disorder associated with fragile site FRA7A,ZNF713,,(GCG)*,AD,Intronic,,5-22,5,22,85,85,85,450,450,450,13.0,3,,,,ref,Methylation,Methylation,(OMIM),"OMIM, https://pubmed.ncbi.nlm.nih.gov/25196122/",,,38,616181,,,,,,
-chr3,129172577,129172659,128891420,128891502,131917483,131917557,(CAGG)18.8,DM2_CNBP,DM2,-,CAGG,CAGG,CCTG,,,,,Myotonic Dystrophy Type 2,CNBP,(CAGG)n(CAGA)10(CA)19,(CAGG)*(CAGA)*(CA)*,AD,Intronic,,11–26,11,26,27-74,27,74,"75-11,000",75,11000,20.8,4,~30-40,30,40,ref,Aberrant splicing,Aberrant splicing,(doi.org/10.1093/hmg/ddr568),"Hannan 2018, Mirkin 2007, GeneReviews NBK1466, https://doi.org/10.1038/s41580-021-00382-6",(TG)n(TCTG)n(CCTG)n. CCTG expansion causes DM2 but the other repeat units are also variable.,,82,602668,,"2.29/100,000",CNBP,CNBP,NBK1466,2001
-chr21,43776443,43776479,45196324,45196360,42132055,42132091,,EPM1_CSTB,EPM1,-,CGCGGGGCGGGG,CGCGGGGCGGGG,CCCCGCCCCGCG,,,,,Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD),CSTB,,(CGCGGGGCGGGG)*,AR,Promoter,,2-3,2,3,12-17,12,17,>=30,30,81,,12,6-15,6,15,,,,,"OMIM, https://www.ncbi.nlm.nih.gov/books/NBK1142/, PMID: 9126745",,,,254800,,,,CSTB,NBK1142,1997
-chr17,80147059,80147139,78120858,78120938,81047454,81047534,,RCPS_EIF4A3,RCPS,-,CCTCGCTGTGCCGCTGCCGA,CCTCGCTGTGCCGCTGCCGA,ACAGCGAGGTCGGCAGCGGC,,,,,Richieri-Costa-Pereira syndrome,EIF4A3,,(CCTCGCTGCGCCGCTGCCGA)*(CCTCGCTGTGCCGCTGCCGA)*,AR,5'UTR,,1-9,1,9,10-13,10,13,>14,14,16,,20,0,0,,,,,,https://www.ncbi.nlm.nih.gov/books/NBK535148/,,,,268305,,,,EIF4A3,NBK535148,
-chr20,4699397,4699493,4680043,4680139,4738633,4738705,,CJD_PRNP,CJD,+,GGTGGTGGCTGGGGGCAGCCTCAT,CCTCATGGTGGTGGCTGGGGGCAG,AGCCTCATGGTGGTGGCTGGGGGC,,,,,Creutzfeldt-Jakob disease,PRNP,(CCTCAGGGCGGTGGTGGCTGGGGGCAG)1(CCTCATGGTGGTGGCTGGGGGCAG)n,(CCTCAGGGCGGTGGTGGCTGGGGGCAG)*(CCTCATGGTGGTGGCTGGGGGCAG)*,AD,Coding,Exon 2,<=4,,4,,,,>=5,5,,,24,middle age,,,,,,,https://www.ncbi.nlm.nih.gov/books/NBK1229/,,,,123400,,,,PRNP,NBK1229,
-chr1,1435798,1435818,1371178,1371198,870158,870178,,HMNR7_VWA1,HMNR7,+,GGCGCGGAGC,GGCGCGGAGC,AGCGGCGCGG,,,,,"Neuronopathy, distal hereditary motor, autosomal recessive 7",VWA1,,(GGCGCGGAGC)*,AR,Coding,Exon 1,2,2,2,,,,Any deviation from 2,1,3,,10,<10,,10,,,,,,,Any deviation from 2 motifs is thought to be pathogenic,,619216,,,,VWA1,NBK535148,
-chr1,94418422,94418444,94883978,94884000,94266545,94266567,,OPDM_ABCD3,OPDM,+,GCC,GCC,CCG,,,,,Oculopharyngodistal myopathy,ABCD3,,(GCC)*,AD,5'UTR,,3-44,3,44,,,,118-694,118,694,7.7,3,average age of onset was 26.7 years (range: 10-50 years),10,50,,,,,https://doi.org/10.1101/2023.10.09.23296582,,,,,,,,,,2023
-chr13,102161577,102161726,102813927,102814076,101377640,101377789,,SCA27B_FGF14,SCA27B,-,AAG,AAG,CTT,,,,,Spinocerebellar ataxia 27B,FGF14,,(AAG)*,AD,Intronic,Intron 1,8-249,8,249,250-299,250,299,>300,300,637,50.3,3,"mean 55±13 for episodic symptoms, 59±11 for progressive ataxia",30,88,ref,Haploinsufficiency,Reduced transcript 2,PMCID: PMC10042577,"https://www.omim.org/entry/620174, https://www.cell.com/ajhg/fulltext/S0002-9297(22)00506-7, PMCID: PMC10042577, PMID: 37399286","250-300 pathogenic with incomplete penetrance, >300 complete penetrance",,,620174,,,FGF14,,,2023
-chr16,72787695,72787758,72821594,72821657,78605503,78605569,(GCC)22.3,SCA4_ZFHX3,SCA4,-,GCC,GCC,CGG,,,,,Spinocerebellar ataxia 4,ZFHX3,,(GCC)*,AD,Coding,Last Exon,16-26 (majority 21),16,26,,,,46-64,46,64,21.3,3,Average 56.4 years. Range 20-60 years,20,60,ref,,,,https://doi.org/10.1101/2023.10.03.23296230,,Expansion found in affected individuals from 3 families and not in any of the 1001 controls,,600223,,,,,,2023
-chr16,67842863,67842950,67876766,67876853,73638637,73638724,,SCA_THAP11,SCA,+,CAG,CAG,AGC,,,,,Spinocerebellar ataxia,THAP11,,(CAG)*,AD,Coding,Exon 1,20-38,20,38,,,,45-100,45,100,29.3,3,"Median age of onset was 34 (range, 4–51)",4,51,ref,PolyQ toxicity,,https://doi.org/10.1002/mds.29412,"https://doi.org/10.1002/mds.29412, https://doi.org/10.1042/ETLS20230018",,"Expansion found in affected individuals from 2 families and not in 500 controls. Longer alleles were associated wither earlier age of onset. For example, an individual with 100 repeats had age of onset at 4 years.",,,,,,,,2023
+chrom,start_hg38,stop_hg38,start_hg19,stop_hg19,start_t2t,stop_t2t,notes_t2t,id,disease_id,gene_strand,reference_motif_reference_orientation,pathogenic_motif_reference_orientation,pathogenic_motif_gene_orientation,benign_motif_reference_orientation,benign_motif_gene_orientation,unknown_motif_reference_orientation,unknown_motif_gene_orientation,disease,gene,flank_motif,locus_structure,Inheritance,type,location_in_gene,normal,normal_min,normal_max,intermediate,intermediate_min,intermediate_max,pathogenic,pathogenic_min,pathogenic_max,ref_copies,repeatunitlen,age_onset,age_onset_min,age_onset_max,typ_age_onset_min,typ_age_onset_max,novel,Mechanism,Mechanism_detail,Mechanism_source,source,notes,details,width,OMIM,disease_freq_num,TR-caused_disease_freq,STRipy_gene,gnomAD_gene,GeneReviews,Year
+chrX,148500605,148500753,147582125,147582273,146765191,146765342,(GCC)51.3,FRAXE_AFF2,FRAXE,+,GCC,GCC,CCG,,,,,"Fragile X syndrome, FRAXE type",AFF2,,(GCC)*,XR,5' UTR,5’ Region,4-39,4,39,,,,200-2000,200,2000,50.3,3,Typical: 2-10; Range: 1-10 (developmental delays without physical features can make onset difficult to detect until schooling),1,10,2,10,ref,"LOF, reduced gene expression",Loss of function via transcriptional silencing,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, OMIM, GeneReviews NBK535148",,,148,309548,"2/50,000","1-4/100,000 males (https://medlineplus.gov/genetics/condition/fragile-xe-syndrome); 1/50-100,000 males, more than 50 families (PMID: 11246464)",AFF2,AFF2,NBK535148,1993
+chr2,100104799,100104824,100721261,100721286,100563686,100563738,(GCC)17.7,FRA2A_AFF3,FRA2A,-,GCC,GCC,CGG,,,,,Intellectual disability associated with fragile site FRA2A,AFF3,,(GCC)*,AD,Intronic,"Intron ",3-20,3,20,,,,300,300,300,8.7,3,Early childhood (small sample size),1,7,1,7,ref,"Decreased gene expression, methylation","""silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene""",malacard,"https://doi.org/10.1038/s41580-021-00382-6, PMC3998887","Path threshold may actually be higher than 300, assay was not sensitive enough",,25,601464,N/A,"1/862 (1/654-1266) population prevalence of methylated AFF3 expansions (mild cognitive disability)
+https://www.medrxiv.org/content/10.1101/2023.05.03.23289461v1.full.pdf
+",,,,2014
+chrX,67545317,67545419,66765159,66765261,65975148,65975250,(GCA)33.3,SBMA_AR,SBMA,+,GCA,GCA,AGC,,,,,"Spinal and bulbar muscular atrophy, Kennedy Disease",AR,,(GCA)*,XR,Coding,Exon 1,9–34,9,34,36-37,36,37,38–68,38,68,34.0,3,"Typical: 20-49 (OMIM), Range: 15-75 (https://doi.org/10.1038/sj.ejhg.5200656) ",20,49,15,75,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,Possibly only in men (OMIM). Weak correlation between repeat length and age of onset; possibly specific to Japanese population. (PMID: 11436124),102,313200,"1/30,000","1-2/100,000 (population-specific, higher in Finnish population, Canadian population) (PMID: 37628685); 1/30,000  (Orphanet) ; mutation frequency of 1:3182 10x more frequent than reported disease prevalence of 1 in 30,000 (PMID: 36797998); Tang et al., 2017: 0.67-2.5/100,000",AR,AR,NBK1333,1991
+chrX,25013649,25013697,25031766,25031814,24597886,24597934,(GCC)14.7,EIEE1_ARX,EIEE1,-,NGC,NGC,CNG,,,,,Early-infantile epileptic encephalopathy,ARX,,(NGC)*,XR,Coding,Exon 2,10-16,10,16,,,,17-27,17,27,14.7,3,"Typical: 0 (PMID: 21204215, PMID: 9307258, OMIM)
+Range: 0-4 (Childhood epilepsy, cognitive disability,  ∼70% of cases infantile spasms -->  seizures by 3 or 4 years re: PMID: 19587282)",0,0,0,4,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"GeneReviews NBK535148, OMIM",Exon 2 aa 110-115,,43,308350; 300419; 300215,N/A,Unknown,ARX_1,ARX_1,NBK535148,
+chrX,25013530,25013565,25031647,25031682,24597767,24597799,(GGCCGCGGCGGCCGC)2.2,PRTS_ARX,PRTS,-,NGC,NGC,CNG,,,,,Partington syndrome,ARX,,(NGC)*,XR,Coding,Exon 2,12,12,12,,,,20,20,20,12.0,3,"Typical: 1-3; Range: 0-4 (OMIM); Mildness can make diagnosis difficult (particularly mild/absent in females) ",0,4,1,3,ref,Polyalanine,Polyalanine,(OMIM) (doi.org/10.1007/s11604-022-01343-5),"GeneReviews NBK535148, OMIM","Novel, Exon 2 aa 144-155",,35,309510,N/A,Unknown,ARX_2,ARX_2,NBK535148,
+chr12,6936717,6936775,7045880,7045938,6947904,6947941,(CAG)12.7,DRPLA_ATN1,DRPLA,+,CAG,CAG,AGC,,,,,Dentatorubral-Pallidoluysian Atrophy,ATN1,,(CAG)*,AD,Coding,Exon 5,3–35,3,35,,,,48-93,48,93,19.0,3,"Typical: 20-40 (PMID: 6808417, NBK1491)
+Range: 0 (PMID: 11160976) - 72 (NBK1491)",20,40,0,72,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,Size correlates with disease severity; infantile cases are extremely large. Juvenile-onset (also referred to as childhood- or early-onset) DRPLA is generally associated with ≥65 CAG repeats. Adult-onset (late-onset) associated with <65 CAG repeats. Thought to be almost fully penetrant. (GeneReview),58,125370,"4.5/1,000,000","2-7/1,000,000",ATN1,ATN1,NBK1491,1994
+chr6,16327634,16327724,16327865,16327955,16200189,16200282,(TGC)31.1,SCA1_ATXN1,SCA1,-,CTG,CTG,AGC,,,,,Spinocerebellar Ataxia Type 1,ATXN1,,(CTG)*,AD,Coding,Exon 8,6–35,6,35,36-38,36,38,39–91,39,91,30.3,3,Typical: 20-39 (UptoDate); Range: 6(PMID: 3165612)-63 (PMID: 8825276),6,63,20,39,ref,Polyglutamine,Polyglutamine,(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1184, s40478-021-01201-x",Interruptions: CAT,Penetrance >95%; age-dependent (GeneReview),90,164400,"1.5/100,000","1-2/100,000",ATXN1,ATXN1,NBK1184,1993
+chr22,45795355,45795424,46191235,46191304,46280060,46280129,(ATTCT)15.0,SCA10_ATXN10,SCA10,+,ATTCT,ATTCT,ATTCT,,,,,Spinocerebellar Ataxia Type 10,ATXN10,,(ATTCT)*,AD,Intronic,Intron 9/11,10–32,10,32,280-850,280,850,800-4500,800,4500,14.0,5,Typical: 12-48; Range: 11-83 (NBK1175),11,83,12,48,ref,Unknown,Transdominant mechanism theorized,(malacard),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",Interruptions: ATCCT,Age of onset influenced by allele size (determines ~1/3) alongside other factors (GeneReview),69,603516,N/A,Unknown; >300 individuals (GeneReview),ATXN10,ATXN10,NBK1175,2000
+chr12,111598950,111599019,112036754,112036823,111575873,111575940,(GCT)22.3,SCA2_ATXN2,SCA2,-,CTG,CTG,AGC,,,,,Spinocerebellar Ataxia Type 2,ATXN2,,(CTG)*,AD/AR,Coding,Exon 1,14–31,14,31,32-34,32,34,33–200,33,200,23.3,3,Typical: 30-39 (GeneReview); Range: 2-86 (OMIM),2,86,30,39,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, GeneReviews NBK1275, s40478-021-01201-x","29–32 repeats: increased ALS risk, Interruptions: CAA, CGG, CGC. Parkinson disease, late-onset, susceptibility.",Wide range of onset with inverse correlationm between allele size and age of onset.,69,183090,"1.5/100,000","1-2/100,000 (Tang et al., 2017) (population dependent)",ATXN2,ATXN2,NBK1275,1996
+chr14,92071012,92071053,92537356,92537397,86300520,86300603,(CTG)28.0,SCA3_ATXN3,"SCA3, MJD",-,CTG,CTG,AGC,,,,,Spinocerebellar Ataxia Type 3/Machado-Joseph Disease,ATXN3,,(CTG)*,AD,Coding,Second last exon,12–44,12,44,45-59,45,59,60-87,60,87,14.0,3,Typical: 10-49 (GeneReview); 5-73 (GeneReview; PMID: 30414314),5,73,10,49,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x","""14:92071009-92071042""","Three subsets with different ranges in ages of onset; penetrance is age related and approaches 100%, with allele size impacting disease velocity and age of onset (PMID: 32978817)",41,109150,"2.1/100,000","1–5/100,000, Tang et al., 2017; Most prevalence SCA subtype (NBK557816)",ATXN3,ATXN3,NBK1196,1994
+chr3,63912685,63912716,63898361,63898392,63956303,63956334,(GCA)10.7,SCA7_ATXN7,SCA7,+,CAG,CAG,AGC,,,,,Spinocerebellar Ataxia Type 7,ATXN7,(CAG)n(CCG)4,(CAG)*(CCG)+,AD,Coding,"Exon 1, 2, or 3 (depending on isoform)",4–19,4,19,28-35,28,35,34–460,34,460,10.7,3,Typical: 4-48 (PMID: 20739808); Range: 0-65 (GeneReview),0,65,4,48,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,"Extremely variability in age of onset, inversely related to allele size (GeneReview)",31,164500,".999/300,000","<1/300,000 (GeneReview)",ATXN7,ATXN7,NBK1256,1996
+chr13,70139383,70139429,70713515,70713561,69361244,69361271,(CTG)9.3,SCA8_ATXN8OS,SCA8,+,CTG,CTG,CTG,,,,,Spinocerebellar Ataxia Type 8,ATXN8OS,(CTA)10(CTG)n,(CTA)*(CTG)*,AD,3' UTR,Exon 5 or 3’ UTR depending on transcript,15–50,15,50,50-70,50,70,71-1300,71,1300,15.3,3,Typical: 20-40; Range: 0-73 (GeneReview),1,73,20,49,ref,"Polyglutamine/toxic gain-of-function; Unknown ","Polyglutamine/toxic gain-of-function; Unknown ",(OMIM) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x","Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS (603680), which, when transcribed, produces a noncoding CUG expansion RNA (Moseley et al., 2006). Roda et al. suggested that the ATXN8 or ATXN8OS gene should not be evaluated in isolation as a candidate gene for spinocerebellar degenerative disease",,46,608768,"0.5/100,000","<1/100,000; Tang et al., 2017; Expansion in 1:100-1200 chromosomes (GeneReview)",ATXN8OS,ATXN8OS,NBK1268,1999
+chr16,66490397,66490466,66524300,66524369,72284667,72284761,(AATAA)19.4,SCA31_BEAN1,SCA31,+,AATAA,"TGGAA,TAGAA","AATGG,AATAG",,,"AAAAA,AAAAC,AAATG,AGAAA,ATAAG,TAAAC,TAACA,TACAA,TCAAA,TGCAA","AAAAA,AAAAC,AAATG,AAAAG,AAGAT,AAACT,AACAT,AATAC,AAATC,AATGC",Spinocerebellar Ataxia Type 31,BEAN1,,(TGGAA)*(TAGAA)*,AD,Intronic,Intron 4/4,0-10,0,10,,,,>110,110,760,14.4,5,"Typical: 56-62 (PMID: 36563608); Range: 8-83 (PMID: 23331413) ",8,83,56,62,novel,Epigenetic,"Role in heterochromatin or chromosomal structure theorized ",(OMIM),"OMIM, Sato 2009, 19878914 (Pubmed), https://doi.org/10.1038/s41580-021-00382-6","Novel, STR-containing insertion, not present in reference genome: Reds disagree on normal/pathogenic sizes",,69,117210,N/A,Unknown (more common in Japanese pop),BEAN1,BEAN1,NBK535148,2009
+chr9,27573484,27573546,27573482,27573544,27584063,27584155,(GCCCCG)15.8,FTDALS1_C9orf72,FTDALS1,-,GGCCCC,GGCCCC,CCGGGG,,,,,Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS),C9orf72,,(GGCCCC)*,AD,Intronic,Intron 1 or 5' depending on transcript,3–25 (2-19 Reds),2,20,20-60,20,60,250-2000,250,2000,10.8,6,Typical: 50-64; Range: 20-91 (GeneReview),20,91,50,64,ref,RNA toxicity proposed,"""The HRE forms DNA and RNA G-quadruplexes with distinct structures and promotes RNA/DNA hybrids (R-loops). The structural polymorphism causes a repeat length-dependent accumulation of transcripts aborted in the HRE region.""",OMIM,"Hannan 2018, GeneReviews NBK535148, OMIM, s40478-021-01201-x",,,62,105500,N/A,"The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population; overall ALS incidence is 1-2/100,000 person-years, point prevalence is 3-5/100,000 (Europe/US); lifetime risk is 1 in 300 (PMID: 31315673). C9orf72-FTD is estimated to be 0.04-134:100,000 (GeneReview), and by our estimates 0.65-1.56/100,000 for C9orf72-ALS. ",C9ORF72,C9ORF72,NBK268647,2011
+chr19,13207859,13207898,13318673,13318712,13333137,13333176,(CTG)13.3,SCA6_CACNA1A,SCA6,-,CTG,CTG,AGC,,,,,Spinocerebellar Ataxia Type 6,CACNA1A,,(CTG)*,AD,Coding,Last Exon: 47 or 48,4–18,4,18,19,19,19,20–33,20,33,13.3,3,Typical: 43-52 (GeneReview); Range: 16 (PMID: 23331413) - 73 (NBK1140),16,73,43,52,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x",,,39,183086,"0.3/100,000","13-15% of global SCA prevalence, estimated to be 0.02-31/100,000 (GeneReview); Tang et al., 2017: 0.3-5/100,000",CACNA1A,CACNA1A,NBK1140,1997
+chr11,119206289,119206322,119076999,119077032,119226663,119226696,(CGG)11.3,JBS_CBL,JBS,+,CGG,CGG,CGG,,,,,Jacobsen syndrome (FRAX11B fragile site),CBL,,(CGG)*,AD,5' UTR,,<79,11,79,,,,>100,100,100,11.3,3,Condition at birth.,0,0,0,0,ref,,No information found,(OMIM),"https://doi.org/10.1038/s41580-021-00382-6, 7603564 (PubMed)",,,33,147791,"1/100,000","1/100,000 births; female/male ratio 2:1 (PMID: 19267933)",CBL,,,
+chr19,18786034,18786049,18896844,18896859,18921630,18921645,,EDM1-PSACH_COMP,"EDM1, PSACH",-,GTC,GTC,ACG,,,,,"Multiple epiphyseal dysplasia, Pseudoachondroplasia",COMP,,(GTC)*,AD,Coding,,5,5,5,,,,4 or 6-7,6,7,5.0,3,Typical: 0-2 (COMP-PSACH)/ 1-12 (EDM1); Range: 0 (PSACH) - 13 (EDM1),0,13,0,12,ref,Protein LOF,"LOF, domain dependent",(https://pubmed.ncbi.nlm.nih.gov/29530484/),Pathogenic Short Tandem Repeats Gnomad v3.1.2,"Two diseases, same locus. Both expansions and contractions associated with disease","Disease phenotypic spectrum based on repeat length, with penetrance 100%. Contraction may also be potentially pathogenic (2-4 repeats from normal 5).",15,132400; 177170,N/A,"Specific contribution of COMP repeats to EDM1 is unknown (~300 COMP mutation variants for both phenotypes); likely 1:90,000 prevalence for COMP-PSACH that is repeat-specific.",COMP,COMP,NBK1123; NBK1487,
+chr1,57367044,57367125,57832716,57832797,57245936,57245977,(AAAAT)8.6,SCA37_DAB1,SCA37,-,AAAAT,GAAAT,ATTTC,,,AAAAA,TTTTT,Spinocerebellar Ataxia Type 37,DAB1,,(AAAAT)*(GAAAT)*(AAAAT)*,AD,Intronic,Intron 1 (most isoforms),0-16,0,16,,,,31-75,31,75,16.6,5,Typical: 33-53; Range: 18-64 (GeneReview),33,53,18,64,novel,Protein toxic GOF,toxic gain-of-function mechanism,(OMIM),"Seixas et al 2017 AJHG, NBK541729, s40478-021-01201-x","Novel. Normal: [(ATTTT)7–400] Pathogenic: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90], ATTTC within (ATTTT)7–400 repeat region",Lifelong penetrance at 100% with variable age of onset.,81,615945,N/A,"0.20/100,000 specific to Portugal; not yet found in other geographic regions",DAB1,DAB1,NBK541729,2017
+chr12,50505002,50505022,50898785,50898805,50468096,50468116,,FRA12A_DIP2B,FRA12A,+,GGC,GGC,CGG,,,,,"Intellectual developmental disorder, FRA12A type",DIP2B,,(GGC)*,AD,5' UTR,,6-23,6,23,~139-206,139,206,~273-306,273,306,7.0,3,Typical: 0-1 (PMID: 3742859); Range: 0-3 (PMID: 4042396),0,3,0,1,ref,"Increased gene expression, methylation","Increased gene expression, methylation","(OMIM, https://www.medrxiv.org/content/10.1101/2022.09.12.22279739v3.full-text)","OMIM, NBK535148, https://www.medrxiv.org/content/10.1101/2022.09.12.22279739v3.full-text",,No consistent phenotype and variable penetrance. Repeat elongation increases expression.,20,136630,N/A,N/A,DIP2B,DIP2B,NBK535148,
+chrX,31284557,31284605,31302674,31302722,30882695,30882743,(TTC)22.7,DMD_DMD,DMD,-,TTC,TTC,AAG,,,,,Duchenne muscular dystrophy,DMD,,(TCC)*,XR,Intronic,,<33,16,33,,,,>59,59,82,16.7,3,Typical: 6-7 (usual disease is 0-3),6,7,6,7,ref,Protein LOF,Functional defect in dystrophin/dystroglycan,(https://doi.org/10.1007/s10038-006-0056-7),PMID: 27417533,,There is conflicting evidence for the association between this repeat expansion and Duchenne muscular dystrophy. The association was reported in a single family (PMID: 27417533). The population frequency of the proposed pathogenic allele is much higher than expected for a highly penetrant early-onset condition.,48,310200,1/4100,Believed to be 0 for disease specific to STR expansion. 1/3500-4700 for overall DMD (one of the most common and severe congenital myopathies).,DMD,DMD,NBK535148,
+chr19,45770204,45770266,46273462,46273524,48597739,48597756,,DM1_DMPK,DM1,-,CAG,CAG,CTG,,,,,Myotonic Dystrophy Type 1,DMPK,,(CAG)*,AD,3' UTR,Last exon,5–34,5,34,35-49,35,49,50-1000,50,1000,20.7,3,"Typical: 10-30 (""classic"", GeneReview); Range: 0-74 (PMID: 38454488)",0,74,10,30,ref,RNA GOF,RNA gain-of-function - RNA gelation leading to misregulation of alternative splicing,(doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1165, s40478-021-01201-x",Interruptions: CCG,Almost 100% penetrance by 50 years; correlation with age of onset and allele size until plateau around 1.2 kB (OMIM),62,160900,"6.5/100,000","5-20/100,000 (GeneReview); Tang et al., 2017: 0.5-18.1/100,000; 6.5/100,000 (PMID: 31159885)",DMPK,DMPK,NBK1165,1992
+chrX,147912037,147912111,146993555,146993629,146176665,146176769,(GGC)35.0,FXS_FMR1,"FXS, FXTAS, POF1",+,CGG,CGG,CGG,,,,,"Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1",FMR1,,(CGG)*,XD,5' UTR,Exon 2,5–44,5,44,45-200,45,200,200-2000,200,2000,20.6667,3,"Typical: FXS 1 to ""first several yeares of life"", FXTAS 60-65 (GeneReview); Range: 0 (FXS, UptoDate) - 78 (PMID: 17427188)",0,78,1,65,ref,"LOF via decreased gene expression in FXS, GOF in FXTAS",Loss of function via transcriptional silencing in FXSRNA GOF in FXTAS,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, NBK1384","FXTAS/POI 55–200, FXS >200, late onset",,74,300624; 300623,"19/100,000","16-25/100,000 males; Tang et al., 2017: known carrier frequency 300-500/100,000 but detected was 11/100,000",FMR1,FMR1,NBK1384,1991
+chr3,138946020,138946062,138664862,138664904,141687014,141687051,(GCGGCTGCAGCCGCA)2.5,BPES_FOXL2,BPES,-,NGC,NGC,CNG,,,,,"Blepharophimosis, epicanthus inversus, and ptosis",FOXL2,,(NGC)*,AD,Coding,Exon 1,<14,14,14,,,,>15,15,15,14.0,3,0 (birth),0,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),NBK535148,,,42,110100,"0.31/50,000","1 in 50,000 births globally for all BPES, with FOXL2 expansions 31% of pathogenic variants (NBK1441; NBK535148)",FOXL2,FOXL2,NBK1441,2001
+chr9,69037286,69037304,71652202,71652220,81210843,81210861,(AAG)9.7,FRDA_FXN,FRDA,+,GAA,GAA,AAG,,,,,Friedreich ataxia,FXN,(A)16(GAA)n,(A)*(GAA)*,AR,Intronic,Intron 1,5–33,5,33,34-65,34,65,66 to 1700,66,1700,6.0,3,Typical: 10-15; Range: 2-80 (GeneReview),2,80,10,15,ref,"LOF, reduced gene expression",Loss of function via transcriptional silencing,(doi.org/10.1038/nrg1691) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK535148",Not annotated by TRF?,,2,229300,"1/50,000","1/50,000 (OMIM); Tang et al., 2017: Known carrier frequency 1000/100,000; observed 421/100,000",FXN,FXN,NBK1281,1996
+chr19,14496041,14496074,14606853,14606886,14622656,14622702,(CCG)15.7,OPDM2_GIPC1,OPDM2,-,CCG,CCG,CGG,,,,,Oculopharyngodistal myopathy,GIPC1,,(CCG)*,AD,5' UTR,Exon 1,6-29,6,29,,,,70-138,70,138,14.7,3,Typical: 20-34 (PMID: 32413282); Range: 14 (PMID: ...282) - 70 (PMID: 33374016),14,70,20,34,ref,RNA toxicity,RNA mediated toxicity hypothesized; unknown,"(OMIM), (doi.org/10.1007/s11604-022-01343-5)","Pathogenic Short Tandem Repeats Gnomad v3.1.2, 32413282 (Pubmed)",,,33,618940,N/A,Population dependent; presumed rare.,GIPC1,GIPC1,NBK535148,2020
+chr2,190880873,190880920,191745599,191745646,191369983,191370024,(GCA)14.0,GDPAG_GLS,GDPAG,+,GCA,GCA,AGC,,,,,Glutaminase deficiency,GLS,,(GCA)*,AR,5' UTR,Exon 1,5-26,5,26,,,,90 - 1500,90,1500,16.0,3,"Early childhood (2-4; PMID: 30970188, 35913761)",2,4,2,4,ref,"Decreased gene expression, methylation",Change in histone modification decreases transcription,(OMIM),"van Kuilenburg 2019 NEJM, 30970188 (Pubmed)",Several compound het cases reported,,47,618412,N/A,"As of 2019, only 7 cases total of GLS deficiency, including non-repeat",GLS,GLS,NBK535148,2019
+chr7,27199678,27199732,27239297,27239351,27335815,27335849,(GCCGCGGCCGCCGCCG)1.9,HFG_HOXA13-III,HFG-III,-,NGC,NGC,CNG,,,,,Hand-foot-genital syndrome 3,HOXA13,,(NGC)*,AD,Coding,Exon 1,8-18,8,18,,,,24-32,24,32,18.0,3,0 (birth),0,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,54,140000,N/A,"""Extremely rare"" (GeneReview)",HOXA13_3,HOXA13_3,NBK1423,2000
+chr7,27199825,27199861,27239444,27239480,27335914,27335954,(GCAGCCGCCGCCGCT)2.9,HFG_HOXA13-II,HFG-II,-,NGC,NGC,CNG,,,,,Hand-foot-genital syndrome 2,HOXA13,,(NGC)*,AD,Coding,Exon 1,12,12,12,,,,18,18,18,12.0,3,0 (birth),0,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2,  NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,36,140000,N/A,"""Extremely rare"" (GeneReview)",HOXA13_2,HOXA13_2,NBK1423,2000
+chr7,27199924,27199966,27239543,27239585,27335920,27335951,(GCAGCCGCCGCCGCT)2.7,HFG_HOXA13-I,HFG-I,-,NGC,NGC,CNG,,,,,Hand-foot-genital syndrome 1,HOXA13,,(NGC)*,AD,Coding,Exon 1,14,14,14,,,,22,22,22,14.0,3,0 (birth),0,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats, Gnomad v3.1.2, NBK1423",There are 3 pathogenic polyalanine tracts in this gene,,42,140000,N/A,"""Extremely rare"" (GeneReview)",HOXA13_1,HOXA13_1,NBK1423,2000
+chr2,176093058,176093103,176957786,176957831,176581179,176581220,(GGC)14.0,SD5_HOXD13,SD5,+,GCN,GCN,CNG,,,,,Syndactyly,HOXD13,,(GCN)*,AD,Coding,Exon 1,< 15,14,15,,,,>22,22,22,14.0,3,0 (birth),0,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,186000,N/A,3 individuals (GeneReview),HOXD13,HOXD13,NBK535148,1996
+chr4,3074877,3074940,3076604,3076667,3073604,3073694,(CAG)30.3,HD_HTT,HD,+,CAG,CAG,AGC,,,,,Huntington disease,HTT,(CAG)nCAACAG(CCG)12,(CAG)*CAACAG(CCG)*,AD,Coding,Exon 1,6–26,6,26,"27-35 unstable, 36-39 reduced penetrance",27,39,40–250 (>60 assocated with onset age <20),40,250,21.3,3,Typical: 35-44 (GeneReview); Range: 2-85 (PMID: 21171977),2,85,35,44,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews, PMID: 12791042",CAG exp only pathogenic. Interruptions impact pathogenicity.,,63,143100,,"1/10,000",HTT,HTT,NBK1305,1993
+chr16,87604283,87604329,87637889,87637935,93675724,93675776,(GCT)17.3,HDL2_JPH3,HDL2,+,CTG,CTG,CTG,,,,,Huntington disease-like 2,JPH3,,(CTG)*,AD,Coding,Exon 2,6–28,6,28,29-39,29,39,40–58,40,58,15.6667,3,Typical: 30-52; Range: 12-66 (GeneReview),12,66,30,52,ref,,"""unstable vertical transmission""",(doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1529",reflen + pos from HipSTR,,46,606438,,"<1/1,000,000",JPH3,JPH3,NBK1529,2001
+chr8,104588972,104588999,105601200,105601227,105716410,105716441,(CGC)10.7,OPDM1_LRP12,OPDM1,-,CGC,CGC,CGG,,,,,Oculopharyngodistal myopathy type 1,LRP12,,(CGC)*,AD,5' UTR,,13-45,13,45,,,,90,90,90,11.7,3,Typical: 31-51 (PMID: 34047774); Range: 7-66 (PMID: 2124290),7,66,31,51,ref,RNA toxicity,RNA mediated toxicity hypothesized; unknown,"(OMIM), (doi.org/10.1007/s11604-022-01343-5)","OMIM 164310, Ishiura et al [2019], Ehdn, NBK535148, PMID 31332380",CGG/CGT,,27,164310,N/A,Population dependent; unknown percentage of LRP12 pathogenic variants.,LRP12,LRP12,NBK1126,2019
+chr5,10356339,10356411,10356451,10356523,10295521,10295593,(TTTTA)14.8,FAME3_MARCHF6,FAME3,+,TTTTA,TTTCA,ATTTC,,,"ATGTT,TAGTT,TTTTG,TTTTT","ATGTT,AGTTT,GTTTT,TTTTT",Familial adult myoclonic epilepsy type 3,MARCHF6,,(TTTTA)*(TTTCA)*,AD,Intronic,Intron 1,0,,,,,,"791-1,035 repeats",791,1035,14.8,5,Typical: 24-41 (PMID: 19616813); Range: 10 (OMIM) - 46 (PMID: 31664039),10,46,24,41,novel,Unknown,Noted as unknown in literature,(OMIM),"Florian, R.T. Nat Comm. 2019",TTTTA + TTTCA,,72,613608,N/A,"Overall FAME prevalence is < 1/35,000; MARCHF6-caused much smaller",MARCHF6,MARCHF6,NBK535148,2019
+chr15,22786677,22786701,23086366,23086390,20458505,20458536,(GCG)10.7,ALS1_NIPA1,ALS1,+,GCG,GCG,CGG,,,,,Amyotrophic lateral sclerosis,NIPA1,,(GCG)*,AD,Coding,,6-10,6,10,,,,> 11,11,56,10.7,3,Typical: 44-60 (PMID: 26777436); Range: 25 (PMID: 22378146) - 77 (PMID: ...346),25,77,44,60,ref,,No information found,N/A in GeneCard,"Pathogenic Short Tandem Repeats Gnomad v3.1.2, 30342764 (Pubmed), path range from gnomAD",Proposed modifier for ALS,,24,105400,,"2.7-7.4/100,000 (All ALS, not just this locus)",NIPA1,NIPA1,,
+chr20,2652733,2652757,2633379,2633403,2683200,2683224,(GCCTGG)8.8,SCA36_NOP56,SCA36,+,GGCCTG,GGCCTG,CCTGGG,,,,,Spinocerebellar ataxia type 36,NOP56,(GGCCTG)n(CGCCTG)3,(GGCCTG)*(CGCCTG)*,AD,Intronic,Intron 1,3 to 14,3,14,15-649,15,649,650-2500,650,2500,7.2,6,Typical: 40-60 (GeneReview); Range: 28 (PMID: 37810464) - 67 (PMID: 37332636),28,67,40,60,ref,Protein toxic GOF,toxic gain-of-function mechanism,(OMIM),"GeneReviews, OMIM, NBK231880",,,42,614153,,Unknown,NOP56,NOP56,,2011
+chr1,149390803,149390842,145209324,145209354,148519696,148519738,(GGC)14.3,NIID_NOTCH2NLC,NIID,+,GGC,GGC,CGG,,,,,"Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype",NOTCH2NLC,,(GGC)*,AD,5' UTR,5' Region,7–39,7,39,,,,66-517,66,517,13.3,3,Typical: 30-70 (OMIM); Range: 10 (PMID: 37090934) - 78 (PMID: 37305750),10,78,30,70,ref,Unknown,May relate to methylation or RNA pathogenicity; Unknown,(OMIM) (doi.org/10.1007/s11604-022-01343-5),"doi: 10.1038/s41588-019-0458-z, https://doi.org/10.1016/j.ajhg.2019.05.013, s40478-021-01201-x","May be issues with parology between genes: C253572.1, NOTCH2, NOTCH2NL, NBPF14, NBPF19 ?? Motif variation in controls: (AGG)(CGG)n(AGG)0-3(CGG)0-2. Methylation involved",,39,603472,,Unknown,NOTCH2NLC,NOTCH2NLC,NBK535148,2019
+chr10,79826383,79826404,81586139,81586160,80695712,80695748,(GCG)12.7,OPML1_NUTM2B-AS1,OPML1,+,GGC,GGC,CGG,,,,,Oculopharyngeal myopathy with leukoencephalopathy 1,NUTM2B-AS1,,(GGC)*,AD,lncRNA,Exon 1 (noncoding),3-16,3,16,,,,>700,700,700,7.0,3,15-40 (PMID: 31332380; only characterized in one family),15,40,15,40,ref,RNA toxicity,"RNA mediated toxicity hypothesized, unknown",(OMIM) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, Ishiura 2019, doi: 10.1038/s41588-019-0458-z, https://doi.org/10.1038/s41580-021-00382-6","Not in TRF annotation, alt transcript in opposite direction: LOC642361",,21,618637,N/A,"""Rare""",NUTM2B-AS1,NUTM2B-AS1,NBK535148,2019
+chr14,23321472,23321502,23790681,23790711,17522488,17522518,,OPMD_PABPN1,OPMD,+,GCN,GCN,CNG,,,,,Oculopharyngeal muscular dystrophy,PABPN1,,(GCN)*,AD/AR,Coding,Exon 1,10,10,10,,,,12-17,12,17,7.0,3,Typical: 40-59 (PMID: 37519616); Range: 20-79 (PMID: 35112761),20,79,40,59,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, GeneReviews NBK1126, s40478-021-01201-x","AR for 11 repeats, AD >12 repeats. Most known patients have (GCG)+, but GCN or any polyalanine may be pathogenic",,20,164300,,"1/100,000 Western countries",PABPN1,PABPN1,NBK1126,1998
+chr4,41745972,41746032,41747989,41748049,41719745,41719805,(GCC)15.7,CCHS_PHOX2B,CCHS,-,GCN,GCN,CNG,,,,,Congenital central hypoventilation syndrome,PHOX2B,,(GCN)*,AD,Coding,Exon 3,20,15,20,24,24,24,25-33,25,33,15.7,3,Typical: 0-2 (GeneReview/PMID: 15121777); Range: 0-36 (PMID: 16873766),0,36,0,2,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Mirkin 2007, GeneReviews NBK1427, s40478-021-01201-x",ReferenceRegion: 4:41745971-41746032,,46,209880,,1:148000-200000 births (Estimated),PHOX2B,PHOX2B,NBK1427,2003
+chr15,89333589,89333629,89876820,89876860,87088412,87088452,(GCT)13.7,CPEO_POLG,CPEO,-,GCT,GCT,AGC,,,,,"Progressive external ophthalmoplegia, Parkinson’s disease",POLG,,(CTG)*TTG(CTG)*,,,,10,10,10,,,,Deviation from 10 may impart disease risk with variable penetrance,,,13.7,3,Typical: 57 (PMID: 20399836) - 59 (PMID: 20826197); Range: 23-87 (PMID: ...836),23,87,57,59,ref,,No information found,N/A in GeneCard,"PMC2905783, PMID: 20399836, PMID: 10196696",Unconfirmed association,There is conflicting evidence for the association between this repeat expansion and Parkinson's risk (PMID: 20399836 and PMID: 10196696). Deviation from 10 may impart disease risk with variable penetrance.,40,Disease association unclear,,,,,,
+chr5,146878728,146878759,146258291,146258322,147414734,147414765,(GCT)15.7,SCA12_PPP2R2B,SCA12,-,GCT,GCT,AGC,,,,,Spinocerebellar ataxia type 12,PPP2R2B,,(GCT)*,AD,Promoter,,4–32,4,32,,,,51–78,51,78,10.7,3,Typical: 26-50; Range: 8-56 (OMIM),8,56,26,50,ref,Unknown,Noted as unknown in literature,"N/A in GeneCard,","Hannan 2018, Mirkin 2007, OMIM, NBK535148, s40478-021-01201-x",(Roda et al. suggested that the ATXN8 or ATXN8OS gene should not be evaluated in isolation as a candidate gene for spinocerebellar degenerative disease),,31,604326,,Unknown,PPP2R2B,PPP2R2B,NBK535148,1999
+chr9,130681606,130681639,133556993,133557026,142886569,142886595,(CGC)9.0,HSAN-VIII_PRDM12,HSAN VIII,+,GCC,GCC,CCG,,,,,Hereditary sensory and autonomic neuropathy type VIII,PRDM12,,(GCC)*,AR,Coding,Exon,<14,12,14,,,,>18,18,19,12.0,3,0 (birth),0,0,0,0,ref,"LOF, epigenetic","""mutations abrogated the histone-modifying potential of PRDM12, consistent with a loss of function""",OMIM,"Pathogenic Short Tandem Repeats Gnomad v3.1.2, https://doi.org/10.1038/ng.3308",,,33,616488,,"<1/1,000,000",PRDM12,PRDM12,NBK535148,
+chr4,159342527,159342618,160263679,160263770,162693304,162693405,(TTTTA)20.4,FAME7_RAPGEF2,FAME7,+,TTTTA,TTTCA,ATTTC,,,"TTTTT,TTATG","TTTTT,ATGTT",Familial adult myoclonic epilepsy type 7,RAPGEF2,,(TTTTA)*(TTTCA)*(TTTTA)*,AD,Intronic,Intron 14,0-1,0,1,,,,>=60,60,60,17.4,5,Typical: 20-33 (PMID: 30351492); Range: 18 (PMID: 29507423) - 37 (PMID: ...492),18,37,20,33,novel,RNA toxicity,RNA toxicity hypothesized,(10.1038/s41588-018-0067-2),"Ishiura 2018, 29507423 (Pubmed), https://sci-hub.hkvisa.net/10.1111/ene.13848","Novel, (TTTTA)exp(TTTCA)exp(TTTTA)n, but only the TTTCA is specific to affected individuals, Alu-associated repeat, incomplete penetrance",,91,618075,,"~<1/35,000",RAPGEF2,RAPGEF2,NBK535148,2018
+chr4,39348425,39348483,39350045,39350103,39318078,39318136,(AAAAG)11.8,CANVAS_RFC1,CANVAS,-,AAAAG,"AAGGG, ACAGG","CCCTT,CCTGT","AAAAG,AAAGG, AAGAG, AGAGG","CTTTT,CCTTT,CTCTT,CCTCT","AAAAA,AAAAC,AACGG,AAGAC,AAGGC,AAGGT,AGAAC,AGGGC,AGGGG,GAAAC,GGGAC,GTGAG,AAAAGA,AAAGGA,GGAAAG","TTTTT,GTTTT,CCGTT,CTTGT,CCTTG,ACCTT,CTGTT,CCCTG,CCCCT,CGTTT,CCCGT,ACCTC,CTTTTT,CCTTTT,CCCTTT","Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",RFC1,,(AAGGG)*(ACAGG)*,AR,Intronic,Intron 2,0-11,0,11,,,,>400,400,2000,11.8,5,Typical: 36-52; Range: 19-76 (GeneReview),19,76,36,52,novel,,No information found,N/A in GeneCard,"OMIM, Cortese 2019, 30926972 (Pubmed), https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01201-x/tables/1, s40478-021-01201-x, https://www.ncbi.nlm.nih.gov/books/NBK564656/, https://doi.org/10.1101/2023.05.12.540470","Novel, ref is AAAAG(11), path: (AAGGG)400–2000 or (ACAGG)exp","Pathogenic expansions may be flanked by other motifs. For example, (AAAGG)10-25(AAGGG)exp(AAAGG)4-6 (PMID: 32851396). Motif heterogeneity is common in unaffected individuals",58,614575,,"Unknown, <1/1,000,000",RFC1,RFC1,NBK564656,2019
+chr12,123533720,123533755,124018267,124018302,123532574,123532608,(GGC)11.7,OPDM4_RILPL1,OPDM4,-,GGC,GGC,CCG,,,,,Oculopharyngodistal myopathy type 4,RILPL1,,(GGC)*,AD,5' UTR,,9-16,9,16,,,,139 to 197,139,197,11.7,3,Typical: 18-30 (PMID: 35148830); Range: 10-30 (PMID: 35700120),10,30,18,30,ref,Protein toxic GOF,"toxic gain-of-function mechanism ",(Malacard),Yu 2022 AJHG,toxic poly-glycine protein and/or toxic RNA gain-of-function effects,,35,,,Population dependent,RILPL1,,,2022
+chr6,45422750,45422792,45390487,45390529,45257567,45257611,(GGC)15.0,CCD_RUNX2,CCD,+,GCN,GCN,CNG,,,,,Cleidocranial dysplasia,RUNX2,,(GCN)*,AD,Coding,Exon 3,<17,4,17,,,,>27,27,27,15.0,3,0 (birth) (GeneReview),0,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,42,119600,,"1/1,000,000 births (likely underdiagnosed)",RUNX2,RUNX2,NBK1513,1997
+chr8,118366813,118366918,119379052,119379157,119495248,119495353,(AAATA)21.6,FAME1_SAMD12,FAME1,-,TAAAA,TGAAA,ATTTC,,,"AAAAA,TAAAC,TAACA,TACAA,TACAC","TTTTT,AGTTT,ATGTT,ATTGT,AGTGT",Familial adult myoclonic epilepsy type 1,SAMD12,,(TAAAA)*(TGAAA)*(TAAAA)*,AD,Intronic,Intron 4/4,0,0,0,,,,105–3680,105,3680,21.6,5,Typical: 21-39 (PMID 29939203); Range: 12 (PMID: ...203) - 68 (PMID: 29507423),12,68,21,39,novel,RNA toxicity proposed,RNA molecules,(OMIM),Ishiura 2018. https://movementdisorders.onlinelibrary.wiley.com/doi/full/10.1002/mds.27832,"Novel, pathogenic alleles include expansions of TTTTAn + TTTCAn, but only the TTTCA is specific to affected individuals, check reference and pathogenic sites with Stranger. TTTCA within TTTTA repeat region",,105,601068,,"~<1/35,000",SAMD12,SAMD12,NBK535148,2018
+chrX,140504316,140504361,139586481,139586526,138816205,138816239,(GCGGCAGCGGCGGCGG)1.9,XLMR_SOX3,XLMR,-,NGC,NGC,CNG,,,,,"X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone    ",SOX3,,(NGC)*,XR,Coding,Exon 1,< 15,15,15,,,,> 22,22,26,15.0,3,"Typical: 0-3 (PMID: 19654509, PMID: 21289259); Range: 0-9 (PMID: ...509) ",0,9,0,3,ref,Polyalanine,Polyalanine,(doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,300123,,,SOX3,SOX3,NBK535148,2002
+chr2,96197067,96197121,96862805,96862859,96703675,96703729,(AAAAT)11.6,FAME2_STARD7,FAME2,-,AAAAT,AAATG,ATTTC,,,"AAAAA,AAAAC,AAACC,AAACG,AAACT,AACTC,AACTG,AATAC,AATAG,ATAAC","TTTTT,GTTTT,GGTTT,CGTTT,AGTTT,AGTTG,AGTTC,ATTGT,ATTCT,ATGTT",Familial adult myoclonic epilepsy 2,STARD7,,(AAATG)*(AAAAT)*,AD,Intronic,,0,0,0,,,,>274,274,274,11.6,5,Typical: 12-30; Range: 4-60 (PMID: 31664034),4,60,12,30,novel,RNA toxicity,"RNA toxicity ",(10.1038/s41467-019-12671-y),Pathogenic Short Tandem Repeats Gnomad v3.1.2,,,54,607876,,"~<1/35,000",STARD7,STARD7,NBK535148,2019
+chr6,170561907,170562017,170870995,170871105,171935459,171935569,(GCA)37.0,SCA17_TBP,SCA17,+,GCA,GCA,AGC,,,,,Spinocerebellar ataxia type 17,TBP,,(GCA)*,AD,Coding,Exon 3,25–40,25,40,41–48,41,48,49 to 66,49,66,37.0,3,Typical: 19-48; Range: 3-62 [has second variant to delay onset] (OMIM),3,62,19,48,ref,"Polyglutamine ","Polyglutamine ",(doi.org/10.1038/nrg.2017.115) (doi.org/10.1007/s11604-022-01343-5),"Hannan 2018, Mirkin 2007, GeneReviews NBK1438","Parkinson disease,late-onset",,110,607136,,"Unknown (global), 0.47:1,000,000 (Japanese)",TBP,TBP,NBK1438,1999
+chr22,19766762,19766807,19754285,19754330,20143615,20143660,,TOF_TBX1,TOF,+,GCN,GCN,CNG,,,,,Tetralogy of Fallot,TBX1,,(GCN)*,AD,Coding,,<15,15,15,,,,>25,25,25,15.0,3,0,0,0,0,0,ref,Polyalanine,Polyalanine,(OMIM),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,187500,,Unknown for specific gene,TBX1,TBX1,NBK535148,
+chr18,55586155,55586227,53253386,53253458,55789234,55789288,(AGC)18.3,FECD3_TCF4,FECD3,-,CAG,CAG,CTG,,,,,Fuchs endothelial corneal dystrophy 3,TCF4,,(CAG)*,AD,Intronic,Intron 1,10 - 40,10,40,,,,>50,50,150,25.3,3,Typical: 40-59 (PMID: 1676829); Range: 32 (PMID: 21245398) - 70 (PMID: 25168903),32,70,40,59,ref,RNA toxicity proposed,"""sequestration of MBNL1 in RNA foci, similar to the mechanism underlying myotonic dystrophy-1 """,(10.1074/jbc.M114.621607),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,72,613267,,~4/100 (over 40),TCF4,TCF4,NBK535148,2015
+chr16,24613439,24613532,24624760,24624853,24890367,24890430,(ATTTT)12.8,FAME6_TNRC6A,FAME6,+,TTTTA,TTTCA,ATTTC,,,TTTTT,TTTTT,Familial adult myoclonic epilepsy type 6,TNRC6A,,(TTTTA)*(TTTCA)*(TTTTA)*,AD,Intronic,,0,0,0,,,,">1100, >=10, 29",1100,1100,18.8,3,"Limited clinical details from one family, ""early 20s to 70s""",23,74,23,74,novel,RNA toxicity,RNA toxicity hypothesized,(10.1038/s41588-018-0067-2),"Ishiura 2018; gnomad v3.1.2, 29507423 (Pubmed), https://doi.org/10.1038/s41597-020-00633-9, https://stripy.org/database/TNRC6A","Novel, reported pathogenic alleles: (TTTTA)22 (TTTCA)exp (TTTTA)exp, but only the TTTCA is specific to affected individuals, Alu-associated repeat. Non-pathogenic reference TTTTA repeat was expanded in nine healthy subjects 40-120 repeats and in two individuals potentially even longer (Ishiura et al., 2018).",,93,618074,,"~<1/35,000",TNRC6A,TNRC6A,NBK535148,2018
+chr16,17470907,17470922,17564764,17564779,17477910,17478013,(GCC)34.7,DBQD2_XYLT1,"DBQD2, BSS",-,GCC,GCC,CGG,,,,,Baratela-Scott Syndrome/Desbuquois dysplasia 2,XYLT1,,(GCC)*,AR,Promoter,Intron 1,<20,0,20,,,,>72,72,110,0.0,3,0 (birth),0,0,0,0,ref,Methylation,Methylation,(doi.org/10.1016/j.ajhg.2018.11.005),"LaCroix 2019, gnomad v3.1.2, 30554721",Repeat is within a sequencing missing from hg38,,1,615777,,"<1 / 1,000,000 births",XYLT1,XYLT1,NBK535148,2019
+chr3,183712188,183712222,183429976,183430010,186521657,186521706,(ATTTT)10.0,FAME4_YEATS2,FAME4,+,TTTTA,TTTCA,ATTTC,,,"TTTTT,TGTTA","TTTTT,ATGTT",Familial adult myoclonic epilepsy 4,YEATS2,,(TTTTA)*(TTTCA)*,AD,Intronic,,0,0,0,,,,>1000,1000,1000,10.0,5,Typical: 20-25 (PMID: 22713812); Range: 10-33 (PMID: 31539032),10,33,20,25,novel,RNA toxicity,RNA toxicity hypothesized,(10.1093/brain/awz267),Pathogenic Short Tandem Repeats Gnomad v3.1.2,,,34,615127,,"~<1/35,000",YEATS2,YEATS2,NBK535148,2019
+chr13,99985448,99985493,100637702,100637747,99196359,99196404,(GCG)15.3,HPE5_ZIC2,HPE5,+,GCN,GCN,CNG,,,,,Holoprosencephaly-5,ZIC2,,(GCN)*,AD,Coding,Exon 3,< 15,15,15,,,,>25,25,25,15.3,3,0,0,0,0,0,ref,"Polyalanine ","Polyalanine ",(doi.org/10.1038/nature05977) (doi.org/10.1007/s11604-022-01343-5),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,45,609637,,Unknown ZIC2 specific,ZIC2,ZIC2,NBK535148,2001
+chrX,137566826,137566856,136648985,136649015,135876774,135876800,(CGC)9.0,VACTERLX_ZIC3,VACTERLX,+,GCN,GCN,CNG,,,,,X-linked VACTERL syndrome,ZIC3,,(GCN)*,XR,Coding,,<10,9,10,11,11,11,>12,12,12,9.0,3,0,0,0,0,0,ref,Polyalanine,Polyalanine,(doi.org/10.1038/nature05977),"Pathogenic Short Tandem Repeats Gnomad v3.1.2, NBK535148",,,30,314390,,Unknown,ZIC3,ZIC3,NBK535148,
+chr7,55887601,55887639,55955294,55955332,56047901,56047939,(GCG)15.0,FRA7A_ZNF713,FRA7A,+,GCG,GCG,CGG,,,,,Autism spectrum disorder associated with fragile site FRA7A,ZNF713,,(GCG)*,AD,Intronic,,5-22,5,22,85,85,85,450,450,450,13.0,3,2-3 (four individuals; PMID: 25196122),2,3,2,3,ref,Methylation,Methylation,(OMIM),"OMIM, https://pubmed.ncbi.nlm.nih.gov/25196122/",,,38,616181,,,,,,
+chr3,129172577,129172659,128891420,128891502,131917483,131917557,(CAGG)18.8,DM2_CNBP,DM2,-,CAGG,CAGG,CCTG,,,,,Myotonic Dystrophy Type 2,CNBP,(CAGG)n(CAGA)10(CA)19,(CAGG)*(CAGA)*(CA)*,AD,Intronic,,11–26,11,26,27-74,27,74,"75-11,000",75,11000,20.8,4,Typical: 28-56 (PMID: 29086017); Range: 0-73 (PMID: 31159885),0,73,28,56,ref,Aberrant splicing,Aberrant splicing,(doi.org/10.1093/hmg/ddr568),"Hannan 2018, Mirkin 2007, GeneReviews NBK1466, https://doi.org/10.1038/s41580-021-00382-6",(TG)n(TCTG)n(CCTG)n. CCTG expansion causes DM2 but the other repeat units are also variable.,,82,602668,,"2.29/100,000",CNBP,CNBP,NBK1466,2001
+chr21,43776443,43776479,45196324,45196360,42132055,42132091,,EPM1_CSTB,EPM1,-,CGCGGGGCGGGG,CGCGGGGCGGGG,CCCCGCCCCGCG,,,,,Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD),CSTB,,(CGCGGGGCGGGG)*,AR,Promoter,,2-3,2,3,12-17,12,17,>=30,30,81,,12,Typical: 6-15  (GeneReview); Range: 6-16 (PMID: 9012407),6,16,6,15,,,,,"OMIM, https://www.ncbi.nlm.nih.gov/books/NBK1142/, PMID: 9126745",,,,254800,,,,CSTB,NBK1142,1997
+chr17,80147059,80147139,78120858,78120938,81047454,81047534,,RCPS_EIF4A3,RCPS,-,CCTCGCTGTGCCGCTGCCGA,CCTCGCTGTGCCGCTGCCGA,ACAGCGAGGTCGGCAGCGGC,,,,,Richieri-Costa-Pereira syndrome,EIF4A3,,(CCTCGCTGCGCCGCTGCCGA)*(CCTCGCTGTGCCGCTGCCGA)*,AR,5'UTR,,1-9,1,9,10-13,10,13,>14,14,16,,20,0 (birth),0,0,0,0,,,,,https://www.ncbi.nlm.nih.gov/books/NBK535148/,,,,268305,,,,EIF4A3,NBK535148,
+chr20,4699397,4699493,4680043,4680139,4738633,4738705,,CJD_PRNP,CJD,+,GGTGGTGGCTGGGGGCAGCCTCAT,CCTCATGGTGGTGGCTGGGGGCAG,AGCCTCATGGTGGTGGCTGGGGGC,,,,,Creutzfeldt-Jakob disease,PRNP,(CCTCAGGGCGGTGGTGGCTGGGGGCAG)1(CCTCATGGTGGTGGCTGGGGGCAG)n,(CCTCAGGGCGGTGGTGGCTGGGGGCAG)*(CCTCATGGTGGTGGCTGGGGGCAG)*,AD,Coding,Exon 2,<=4,,4,,,,>=5,5,,,24,Typical: 50-60 (GeneReview); Range: 31-63 (PMID: 37379724),31,63,50,60,,,,,https://www.ncbi.nlm.nih.gov/books/NBK1229/,,,,123400,,,,PRNP,NBK1229,
+chr1,1435798,1435818,1371178,1371198,870158,870178,,HMNR7_VWA1,HMNR7,+,GGCGCGGAGC,GGCGCGGAGC,AGCGGCGCGG,,,,,"Neuronopathy, distal hereditary motor, autosomal recessive 7",VWA1,,(GGCGCGGAGC)*,AR,Coding,Exon 1,2,2,2,,,,Any deviation from 2,1,3,,10,Typical: 1-3 (PMID: 33559681); Range: 0-10 (OMIM),0,10,1,3,,,,,,,Any deviation from 2 motifs is thought to be pathogenic,,619216,,,,VWA1,NBK535148,
+chr1,94418422,94418444,94883978,94884000,94266545,94266567,,OPDM_ABCD3,OPDM,+,GCC,GCC,CCG,,,,,Oculopharyngodistal myopathy,ABCD3,,(GCC)*,AD,5'UTR,,3-44,3,44,,,,118-694,118,694,7.7,3,"Typical: 24-30, 10-50 (doi.org/10.1101/2023.10.09.23296582)",10,50,24,30,,,,,https://doi.org/10.1101/2023.10.09.23296582,,,,,,,,,,2023
+chr13,102161577,102161726,102813927,102814076,101377640,101377789,,SCA27B_FGF14,SCA27B,-,AAG,AAG,CTT,,,,,Spinocerebellar ataxia 27B,FGF14,,(AAG)*,AD,Intronic,Intron 1,8-249,8,249,250-299,250,299,>300,300,637,50.3,3,Typical: 42-70; Range: 21-87 (NBK599589),21,87,42,70,ref,Haploinsufficiency,Reduced transcript 2,PMCID: PMC10042577,"https://www.omim.org/entry/620174, https://www.cell.com/ajhg/fulltext/S0002-9297(22)00506-7, PMCID: PMC10042577, PMID: 37399286","250-300 pathogenic with incomplete penetrance, >300 complete penetrance",,,620174,,,FGF14,,NBK599589,2023
+chr16,72787695,72787758,72821594,72821657,78605503,78605569,(GCC)22.3,SCA4_ZFHX3,SCA4,-,GCC,GCC,CGG,,,,,Spinocerebellar ataxia 4,ZFHX3,,(GCC)*,AD,Coding,Last Exon,16-26 (majority 21),16,26,,,,46-64,46,64,21.3,3,"Typical: 37- 56; Range: 15 - 60 (PMID: 38035881 - https://doi.org/10.1101/2023.10.03.23296230) ",15,60,37,56,ref,,,,https://doi.org/10.1101/2023.10.03.23296230,,Expansion found in affected individuals from 3 families and not in any of the 1001 controls,,600223,,,,,,2023
+chr16,67842863,67842950,67876766,67876853,73638637,73638724,,SCA_THAP11,SCA,+,CAG,CAG,AGC,,,,,Spinocerebellar ataxia,THAP11,,(CAG)*,AD,Coding,Exon 1,20-38,20,38,,,,45-100,45,100,29.3,3,Typical: 8-40; Range: 4-51 (PMID: 37148549),4,51,8,40,ref,PolyQ toxicity,,https://doi.org/10.1002/mds.29412,"https://doi.org/10.1002/mds.29412, https://doi.org/10.1042/ETLS20230018",,"Expansion found in affected individuals from 2 families and not in 500 controls. Longer alleles were associated wither earlier age of onset. For example, an individual with 100 repeats had age of onset at 4 years.",,,,,,,,2023