Arrhythmogenic Cardiomyopathy
Gene: PKP2

PKP2 (plakophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 11 panels

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - DEFINITIVE
Created: 27 May 2021, 5:10 a.m. | Last Modified: 27 May 2021, 5:10 a.m.

Panel Version: 0.47

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

PMID: 33831308

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 May 2021, 5:10 a.m.
Last Modified: 27 May 2021, 5:10 a.m.
Panel version: 0.47

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 3 Aug 2020, 7:08 a.m. | Last Modified: 3 Aug 2020, 7:08 a.m.

Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular dysplasia 9, MIM# 609040

Created: 3 Aug 2020, 7:08 a.m.
Last Modified: 3 Aug 2020, 7:08 a.m.
Panel version: 0.29

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Arrhythmogenic right ventricular dysplasia 9, MIM# 609040

OMIM

602861

Clinvar variants

Variants in PKP2

Penetrance

None

Publications

33831308

Panels with this gene