Incidentalome

Gene: DSC2

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

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

• 17963498
• 21062920
• 23863954
• 17186466
• 18957847
• 17033975
• 28339476

I don't know

ClinGen "Definitive" for ARVC. I can find no specific association with DCM, but this gene is green on the PanelApp GEL DCM panel for phenotypic overlap with DCM.

One VUS in DSC2 was identified in a patient who had undergone transplant for DCM (PMID: 21859740) (24 hets in gnomAD).
Sources: Literature

Created: 3 Aug 2020, 3:22 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476

Publications

• 21859740

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