DSP

PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R133
Signed-off version 2.9
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)
R-numbers: R135
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R132
Signed-off version 1.6
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)
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
R-numbers: R21
Signed-off version 1.92
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
R-numbers: R165
Signed-off version 1.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Skin fragility-woolly hair syndrome, Keratosis palmoplantaris striata II, 612908, lethal acantholytic epidermolysis bullosa, 609638, Striate keratoderma with woolly hair and cardiomyopathy, Skin fragility-woolly hair syndrome, 607655, oligodontia or hypodontia, alopecia, follicular hyperkeratoses and keratoderma, diffuse keratoderma, Epidermolysis bullosa, lethal acantholytic, striate keratoderma, CARVAJAL SYNDROME, Arrhythmogenic right ventricular dysplasia 8, 607450, Keratosis palmoplantaris striata II, Dilated cardiomyopathy with woolly hair and keratoderma, 605676
R-numbers: R166
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders