Cardiomyopathies - including childhood onsetGene: PKP2
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
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
Source NHS GMS was added to PKP2.
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