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Cardiomyopathies - including childhood onset

Gene: PKP2

Green List (high evidence)

PKP2 (plakophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Arrhythmogenic right ventricular dysplasia 9 OMIM#609040
Created: 25 Mar 2019, 4:30 p.m.
Core ARVC gene: Svensson Am J Cardiovasc Dis 2016;6(2):55-65: reported sudden death in a 14 year old with a PKP2 variant which was well established in the family, two paediatric family members were asymptomatic but heterozygote. Also a 2018 paper of PKP2 assoc with adult onset HCM.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 9
OMIM
602861
Clinvar variants
Variants in PKP2
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PKP2.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: PKP2 was added gene: PKP2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9