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| Cardiac conduction disease v0.17 | POPDC2 | Bryony Thompson Classified gene: POPDC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.17 | POPDC2 | Bryony Thompson Gene: popdc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac conduction disease v0.16 | POPDC2 |
Bryony Thompson gene: POPDC2 was added gene: POPDC2 was added to Cardiac conduction disease. Sources: Literature Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POPDC2 were set to 39006410; 32535041 Phenotypes for gene: POPDC2 were set to Heart conduction disease MONDO:0000992 Review for gene: POPDC2 was set to GREEN Added comment: 4 families with sinus node disease and AV node defects with biallelic variants. Loss of function is the expected mechanism of disease. There is also a single report of monozygotic twins with a heterozygous nonsense variant and conduction disease. However, the more recent study reporting the biallelic association found that none of the familial variants were associated with clinical outcomes in the heterozygous state. Sources: Literature |
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