DSC2

PanelMode of inheritanceDetails
5 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
Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 (610476), Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
R-numbers: R135
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia 11
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
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476), Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11 (610476)
R-numbers: R165
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic right ventricular dysplasia 11, 610476, Striate keratoderma with woolly hair, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
R-numbers: R166
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders, Palmoplantar keratoderma, woolly hair