Paediatric or syndromic cardiomyopathy
Gene: POPDC2EnsemblGeneIds (GRCh38): ENSG00000121577
EnsemblGeneIds (GRCh37): ENSG00000121577
OMIM: 605823, Gene2Phenotype
POPDC2 is in 1 panel
2 reviews
Ludmila Volozonoka (Children's Clinical University Hospital)
PMID: 41456958 presents additional biallelic LOF variant in a pediatric case presenting with arrhythmias and left ventricular hypertrophy.Created: 23 Mar 2026, 3:38 p.m. | Last Modified: 23 Mar 2026, 3:38 p.m.
Panel Version: 7.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
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: LiteratureCreated: 23 Mar 2026, 9:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cardiac conduction defects and hypertrophic cardiomyopathy
Publications
- PMID: 40409267
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
-
- PMID: 40409267
- Panels with this gene
History Filter Activity
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