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  2. Paediatric or syndromic cardiomyopathy
  3. POPDC2
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Paediatric or syndromic cardiomyopathy

Gene: POPDC2

No list
POPDC2 (popeye domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000121577
EnsemblGeneIds (GRCh37): ENSG00000121577
OMIM: 605823, Gene2Phenotype
POPDC2 is in 1 panel

1 review

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

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
Created: 23 Mar 2026, 9:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cardiac conduction defects and hypertrophic cardiomyopathy

Publications

Created: 23 Mar 2026, 9:31 a.m.

Panel version: 7.99

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • cardiac conduction defects and hypertrophic cardiomyopathy
OMIM
605823
Clinvar variants
Variants in POPDC2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

23 Mar 2026, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

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