DSP

PanelMode of inheritanceDetails
7 panels
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)
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
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)
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, 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
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
R-numbers: R166
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders