Arrhythmogenic Cardiomyopathy
Gene: DSC2

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

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - DEFINITIVE
Created: 27 May 2021, 5:17 a.m. | Last Modified: 27 May 2021, 5:17 a.m.

Panel Version: 0.47

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
ARVC

Publications

33831308

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 May 2021, 5:17 a.m.
Last Modified: 27 May 2021, 5:17 a.m.
Panel version: 0.47

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen, multiple families and different lines of functional data support this gene-disease association.
Created: 3 Oct 2020, 8:27 a.m. | Last Modified: 3 Oct 2020, 8:27 a.m.

Panel Version: 0.36

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476

Publications

Created: 3 Oct 2020, 8:27 a.m.
Last Modified: 3 Oct 2020, 8:27 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476

OMIM

125645

Clinvar variants

Variants in DSC2

Penetrance

None

Publications

Panels with this gene