Genomics England
GMS Panels
Panels
Genes and Entities

PKP2

plakophilin 2
OMIM: 602861
PanelMode of inheritanceDetails
3 panels
Green
in Arrhythmogenic cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R133
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular dysplasia 9 (609040), Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
Green
in Cardiomyopathies - including childhood onset
R-numbers: R135
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
Green
in Dilated cardiomyopathy - adult and teen
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 (609040)