Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

Sign up for GitHub

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Jump to bottom

updating AR and ARX #23

Merged
merged 2 commits into from
Jun 14, 2024
Merged

updating AR and ARX #23

Changes from all commits
Commits
Show all changes
2 commits
Select commit Hold shift + click to select a range
07e8426
updating AR and ARX
laurelhiatt Jun 13, 2024
887f02d
addressed questions
laurelhiatt Jun 14, 2024
File filter

Filter by extension

Filter by extension
Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
16 changes: 8 additions & 8 deletions data/STRchive-database.json
View file
Open in desktop
Original file line number Diff line number Diff line change
Expand Up @@ -210,18 +210,18 @@
"pathogenic_max":68.0,
"ref_copies":34.0,
"repeatunitlen":3,
"age_onset":"Typical: 20-49 (OMIM), Range: 15-75 (https:\/\/doi.org\/10.1038\/sj.ejhg.5200656) ",
"age_onset_min":15,
"age_onset_max":75,
"age_onset":"Typical: 20-49 (OMIM), Range: 8(PMID: 15851746)-78 (PMID: 19227892)",
"age_onset_min":8,
"age_onset_max":78,
"typ_age_onset_min":20.0,
"typ_age_onset_max":49.0,
"novel":"ref",
"Mechanism":"Polyglutamine",
"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",
"notes":"Can have 'CAA' as an interruption (PMID: 35245110)",
"details":null,
"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 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)",
laurelhiatt marked this conversation as resolved.
Show resolved Hide resolved
"width":102.0,
"OMIM":"313200",
"Prevalence":"1\/30000",
Expand Down Expand Up @@ -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":null,
"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,
Expand Down Expand Up @@ -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":null,
"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,
Expand Down