From 79e0737252c2578f061ac0c5a2c07688931e2a67 Mon Sep 17 00:00:00 2001 From: "Laurel (they/he)" <85411760+laurelhiatt@users.noreply.github.com> Date: Fri, 14 Jun 2024 17:36:53 +0000 Subject: [PATCH] addressed questions --- data/STRchive-database.json | 10 +++++----- 1 file changed, 5 insertions(+), 5 deletions(-) diff --git a/data/STRchive-database.json b/data/STRchive-database.json index 4894726..013f4ed 100644 --- a/data/STRchive-database.json +++ b/data/STRchive-database.json @@ -211,8 +211,8 @@ "ref_copies":34.0, "repeatunitlen":3, "age_onset":"Typical: 20-49 (OMIM), Range: 8(PMID: 15851746)-78 (PMID: 19227892)", - "age_onset_min":15, - "age_onset_max":75, + "age_onset_min":8, + "age_onset_max":78, "typ_age_onset_min":20.0, "typ_age_onset_max":49.0, "novel":"ref", @@ -220,7 +220,7 @@ "Mechanism_detail":"Polyglutamine", "Mechanism_source":"(doi.org\/10.1038\/nrg.2017.115) (doi.org\/10.1007\/s11604-022-01343-5)", "source":"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x, doi.org/10.1016/j.neurol.2017.03.019, doi.org/10.1016/j.pneurobio.2012.05.007, doi.org/10.1111/odi.12121, DOI: 10.1007/s00415-018-8968-7, DOI: 10.1007/s12031-015-0684-5", - "notes":"Possibility that contractions may play a role in disease (PMID: 10398229). May be subclinical in females (PMID: 34922802). Interruptions appear not to play a role (PMID: 24041967). Can be clinically heterogeneous even within the same family (PMID: 20184516); may present with clinical heterogeneity.", + "notes":"Possibility that contractions may play a role in disease (PMID: 10398229). May be subclinical in females (PMID: 34922802). Interruptions are not found and thus appear not to play a role in disease (PMID: 24041967). Can be clinically heterogeneous even within the same family (PMID: 20184516); may present with clinical heterogeneity.", "details":"First triplet disease to be discovered (doi:10.1001/archneur.61.8.1324)", "width":102.0, "OMIM":"313200", @@ -279,7 +279,7 @@ "Mechanism_source":"(doi.org\/10.1038\/nature05977) (doi.org\/10.1007\/s11604-022-01343-5)", "source":"GeneReviews NBK535148, OMIM", "notes":"Exon 2 aa 110-115", - "details":"ARX expansions result in a range of phenotypes described in 10.1002/mgg3.133 and 10.1002/humu.21288", + "details":"ARX expansions result in a range of phenotypes such as Partington syndrome (OMIM 309510), Early Infantile Epileptic Encephalopathy (OMIM 308350), Agenesis of Corpus Callosum with Abnormal Genitalia (OMIM 300004), and X-Linked Lissencephaly with Ambiguous Genitalia (OMIM 300215) as described in 10.1002/mgg3.133 and 10.1002/humu.21288", "width":43.0, "OMIM":"308350; 300419; 300215", "Prevalence":null, @@ -337,7 +337,7 @@ "Mechanism_source":"(OMIM) (doi.org\/10.1007\/s11604-022-01343-5)", "source":"GeneReviews NBK535148, OMIM", "notes":"Novel, Exon 2 aa 144-155", - "details":"ARX expansions result in a range of phenotypes described in 10.1002/mgg3.133 and 10.1002/humu.21288", + "details":"ARX expansions result in a range of phenotypes such as Partington syndrome (OMIM 309510), Early Infantile Epileptic Encephalopathy (OMIM 308350), Agenesis of Corpus Callosum with Abnormal Genitalia (OMIM 300004), and X-Linked Lissencephaly with Ambiguous Genitalia (OMIM 300215) as described in 10.1002/mgg3.133 and 10.1002/humu.21288", "width":35.0, "OMIM":"309510", "Prevalence":null,