Hypertrophic cardiomyopathy_HCM
Gene: POPDC2
6 individuals from 4 families with biallelic variants in POPDC2 and sinus node dysfunction (4/6), AV conduction defects (6/6), and hypertrophic cardiomyopathy (2/6). The variants (2 missense, 2 truncating, 1 indel) are predicted to diminish the ability of POPDC2 to bind cAMP. Muscle biopsy of an affected individual did not show clear myopathic disease. None of the familial variants were associated with clinical outcomes in heterozygous state, (using population-level genetic data of > 1 million individuals).
Sources: LiteratureCreated: 3 Jun 2025, 11:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic cardiomyopathy MONDO:0005045, POPDC2-related
Publications
Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Gene: popdc2 has been classified as Amber List (Moderate Evidence).
gene: POPDC2 was added gene: POPDC2 was added to Hypertrophic cardiomyopathy_HCM. 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 Hypertrophic cardiomyopathy MONDO:0005045, POPDC2-related Review for gene: POPDC2 was set to AMBER