PLD1 Gene Curation
- Katherine Lafferty
Gene-disease assertions not curated here (add link or write note):
Disease | Developmental cardiac valvular defect |
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Inheritance | Autosomal recessive |
Prevalence |
Source: |
Rapid or full curation? | Rapid Full |
GenCC- cardiac valvular defect, developmental (Invitae: Strong, Ambry: Moderate) OMIM- Cardiac valvular dysplasia 1 | |
Clinical Validity Scoring Notes and points | Variant/Case Evidence: PMID: 33645542- Multiple variants in multiple families: pLOF variants - 6 x 2 points = 12 points Missense variants w/o consanguinity, not in gnomAD - 15 x 0.5 = 7.5 points Segregation Evidence: PMID: 33645542- Segregations: 8 total from multiple families (2 points) Case/Control Evidence: Experimental Evidence: PMID: 27799408 (knockout mouse models show cardiac features)- Max points already hit Source: |
Clinical Validity Points Total |
Source: |
Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed | Definitive Source: |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function PMID: 27799408
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Penetrance Complete (100%) High (≥80%) Moderate (<80% and >20%) Low (≤20%) (list source/PMID) |
Source: |
Age of Onset Congenital Pediatric Adolescent Adulthood Late adulthood (list source/PMID) |
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Severity |
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Clinical Features |
Sources: |
HPO Terms |
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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 |
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Case ID, Curator name, Date, Jira ticket link |
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