Genomics England

DSP

desmoplakin

Panel	Mode of inheritance	Details
Filter panels7 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Keratosis palmoplantaris striata II (612908), Skin fragility-woolly hair syndrome (607655), Arrhythmogenic right ventricular dysplasia 8 (607450), Epidermolysis bullosa, lethal acantholytic (609638), Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma (605676), Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
Green in Cardiomyopathies - including childhood onset R-numbers: R135 Signed-off version 2.2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dilated cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Epidermolysis bullosa, lethal acantholytic (609638), Skin fragility-woolly hair syndrome (607655), Arrhythmogenic right ventricular dysplasia 8, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821), Arrhythmogenic right ventricular dysplasia 8 (607450), Keratosis palmoplantaris striata II (612908), Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
Green in Epidermolysis bullosa and congenital skin fragility R-numbers: R164 Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epidermolysis bullosa, lethal acantholytic, 609638, Severe generalised Epidermolysis bullosa simplex, Skin fragility-woolly hair syndrome,607655, Lethal acantholytic epidermolysis bullosa
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Arrhythmogenic right ventricular dysplasia 8 607450, Keratosis palmoplantaris striata II, 612908, Cardiomyopathy, dilated, with woolly hair and keratoderma 605676, Skin fragility-woolly hair syndrome 607655, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821, Epidermolysis bullosa, lethal acantholytic 609638
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 2.1	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 Palmoplantar keratodermas R-numbers: R166 Signed-off version 2.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Desmosomal disorders