Genomics England

DSC2

desmocollin 2

Panel	Mode of inheritance	Details
Filter panels5 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 (610476), Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476), Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 (610476)
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
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 5.13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia 11
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Desmosomal disorders, Palmoplantar keratoderma, woolly hair