Genomics England

desmoglein 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 3.11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiomyopathy, dilated, 1BB (612877), Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10 (610193)
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 2.25	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10 (610193), Cardiomyopathy, dilated, 1BB (612877)
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 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cardiomyopathy, dilated, 1BB,, Arrhythmogenic right ventricular dysplasia 10