XRCC5 Gene Curation
- Andrea Oza
Analytics
Gene-disease assertions not curated here (add link or write note): congenital heart disease, autism, limb abnormalities, developmental disorder, bladder cancer risk
Disease | N/A, no genetic evidence |
|---|---|
Inheritance | Autosomal recessive |
Prevalence | N/A |
Rapid or full curation? | Rapid Full |
| |
Clinical Validity Scoring Notes and points | No entries in ClinVar or GenCC. HGMD has 6 entries, but they are all DM?, DFP, or FP. The reported phenotypes are congenital heart disease, autism, limb abnormalities, developmental disorder, bladder cancer risk and reduced expression. |
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 | N/A |
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) |
|
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 https://broadinstitute.atlassian.net/browse/CIT-127 |