Genomics England

DSP

desmoplakin

Panel	Mode of inheritance	Details
Filter panels8 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 8, OMIM:607450 (AD), Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR), Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes DSP-related developmental disorder
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 Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR), Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD), Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Green in Epidermolysis bullosa and congenital skin fragility R-numbers: R164 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epidermolysis bullosa, lethal acantholytic, OMIM:609638, Skin fragility-woolly hair syndrome, OMIM:607655
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Epidermolysis bullosa, lethal acantholytic, OMIM:609638 (AR), Skin fragility-woolly hair syndrome, OMIM:607655 (AR), Keratosis palmoplantaris striata II, OMIM:612908 (AD), Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR), Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD), Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 3.2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Keratosis palmoplantaris striata II, OMIM:612908, Epidermolysis bullosa, lethal acantholytic, OMIM:609638, Skin fragility-woolly hair syndrome, OMIM:607655, Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676, Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD), Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR), Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR), Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD), Keratosis palmoplantaris striata II, OMIM:612908 (AD)