DSP

PanelMode of inheritanceDetails
8 panels
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 3.10
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DSP-related developmental disorder
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 2.23
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)
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
R-numbers: R21, R412
Signed-off version 4.0
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)
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
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.0
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)
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)