Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cardiomyopathy_Paediatric

Gene: DSC2

Green List (high evidence)

DSC2 (desmocollin 2)
EnsemblGeneIds (GRCh38): ENSG00000134755
EnsemblGeneIds (GRCh37): ENSG00000134755
OMIM: 125645, Gene2Phenotype
DSC2 is in 11 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
OMIM
125645
Clinvar variants
Variants in DSC2
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DSC2 was added gene: DSC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair