APTX Gene Curation
- Andrea Oza
Gene-disease assertions not curated here (add link or write note):
Disease | ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
|---|---|
Inheritance | Autosomal recessive |
Prevalence |
Source: |
Rapid or full curation? | Rapid Full |
ClinGen - no entries GenCC (accessed 06/14/2023)
| |
Clinical Validity Scoring Notes and points | Not evaluated |
Clinical Validity Points Total | Not evaluated |
Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed | Strong Source: (GenCC) |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Not evaluated |
Penetrance Complete (100%) High (≥90%) Reduced (<90% and >10%) Low (≤10%) (list source/PMID) | Not evaluated |
Age of Onset Congenital Pediatric Adolescent Adulthood Late adulthood (list source/PMID) | Not evaluated |
Severity | Not evaluated |
Clinical Features | Not evaluated |
Gene SOPs & Notes | LINK if SOP is a long document. Short notes if it is easy to digest. eg. Last known truncating variant |
Curation Summary: | Not evaluated |
Case ID, Curator name, Date, Jira ticket link | Andrea Oza, 06/14/2023 https://broadinstitute.atlassian.net/browse/CIT-127 |