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| Paediatric or syndromic cardiomyopathy v7.99 | POPDC2 |
Dmitrijs Rots gene: POPDC2 was added gene: POPDC2 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POPDC2 were set to PMID: 40409267 Phenotypes for gene: POPDC2 were set to cardiac conduction defects and hypertrophic cardiomyopathy Penetrance for gene: POPDC2 were set to unknown Review for gene: POPDC2 was set to GREEN Added comment: PMID: 40409267 reports 4 families with recessive inheritance with presenting with cardiac conduction defects and hypertrophic cardiomyopathy with some functional evidence. enough for green rating. Sources: Literature |
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