BABAM1 Gene Curation
- Andrea Oza
Analytics
Gene-disease assertions not curated here (add link or write note): Cancer syndrome associations, 3 DM?/DP variants in HGMD
Disease | N/A |
|---|---|
Inheritance | N/A |
Prevalence | N/A |
Rapid or full curation? | Rapid Full |
ClinGen - no GCEP curations, no evidence for haploinsufficiency/triplosensitivity GenCC - no curations OMIM - no conditions HGMD - 3 variants present, all DM? Or DP cancer syndrome associations, did not further investigate | |
Clinical Validity Scoring Notes and points | N/A |
Clinical Validity Points Total | N/A |
Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed | No genetic evidence |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | N/A |
Penetrance Complete (100%) High (≥90%) Reduced (<90% and >10%) Low (≤10%) (list source/PMID) | N/A |
Age of Onset Congenital Pediatric Adolescent Adulthood Late adulthood (list source/PMID) | N/A |
Severity | N/A |
Clinical Features | N/A |
Gene SOPs & Notes | N/A |
Curation Summary: | N/A |
Case ID, Curator name, Date, Jira ticket link | Andrea Oza, 06/14/2023 |