Genomics England
GMS Panels
Panels
Genes and Entities

DSC2

desmocollin 2
OMIM: 125645
PanelMode of inheritanceDetails
5 panels
Green
in Arrhythmogenic right ventricular cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R133
Signed-off version 3.5
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)
Green
in Dilated and arrhythmogenic cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.8
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)
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 3.0
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
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders, Palmoplantar keratoderma, woolly hair