Arrhythmogenic Cardiomyopathy
Gene: DSG2

DSG2 (desmoglein 2)
EnsemblGeneIds (GRCh38): ENSG00000046604
EnsemblGeneIds (GRCh37): ENSG00000046604
OMIM: 125671, Gene2Phenotype
DSG2 is in 9 panels

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - DEFINITIVE
Created: 27 May 2021, 5:15 a.m. | Last Modified: 27 May 2021, 5:15 a.m.

Panel Version: 0.47

Phenotypes
ARVC

Publications

33831308

Created: 27 May 2021, 5:15 a.m.
Last Modified: 27 May 2021, 5:15 a.m.
Panel version: 0.47

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 3 Aug 2020, 7:16 a.m. | Last Modified: 3 Aug 2020, 7:16 a.m.

Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular dysplasia 10, MIM# 610193

Created: 3 Aug 2020, 7:16 a.m.
Last Modified: 3 Aug 2020, 7:16 a.m.
Panel version: 0.32

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Arrhythmogenic right ventricular dysplasia 10, MIM# 610193

OMIM

125671

Clinvar variants

Variants in DSG2

Penetrance

None

Publications

33831308

Panels with this gene