Hypertrophic cardiomyopathy_HCM

Gene: POPDC2

Amber List (moderate evidence)

POPDC2 (popeye domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000121577
EnsemblGeneIds (GRCh37): ENSG00000121577
OMIM: 605823, Gene2Phenotype
POPDC2 is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

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: Literature
Created: 3 Jun 2025, 11:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypertrophic cardiomyopathy MONDO:0005045, POPDC2-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy MONDO:0005045, POPDC2-related
OMIM
605823
Clinvar variants
Variants in POPDC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: popdc2 has been classified as Amber List (Moderate Evidence).

3 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: popdc2 has been classified as Amber List (Moderate Evidence).

3 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: popdc2 has been classified as Amber List (Moderate Evidence).

3 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: popdc2 has been classified as Amber List (Moderate Evidence).

3 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: popdc2 has been classified as Amber List (Moderate Evidence).

3 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: popdc2 has been classified as Amber List (Moderate Evidence).

3 Jun 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

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