Genomics England

plakophilin 2

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in Arrhythmogenic right ventricular cardiomyopathy Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R133 Signed-off version 3.12	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040), Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
Green in Dilated and arrhythmogenic cardiomyopathy Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R132 Signed-off version 2.32	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 (609040)
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9