POLL Gene Curation
- Andrea Oza
Gene-disease assertions not curated here (add link or write note): FROM HGMD (DM?): schizophrenia, head and neck squamous cell carcinoma, developmental disorder, congenital heart disease, prostate cancer). 1 DM duplication associated with autism
Disease |
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|---|---|
Inheritance | Autosomal recessive |
Prevalence | N/A |
Rapid or full curation? | Rapid Full |
ClinGen - Dosage sensitivity curation: No evidence for triplosensitivity or haploinsufficiency. Tandem duplications that include LBX1, BTRC, and POLL, and had a breakpoint within FBXW4 (DAC) reported in individuals with split hand-foot malformation. GENCC - no curations HGMD - DM? Variants listed with several reported phenotypes (schizophrenia, head and neck squamous cell carcinoma, developmental disorder, congenital heart disease, prostate cancer). 1 DM duplication associated with autism. Did not review variants further. | |
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 | Limited/No Genetic Evidence |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function / Gain of function / Dominant Negative
|
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 https://broadinstitute.atlassian.net/browse/CIT-127 |