Dilated Cardiomyopathy
Gene: DSC2Comment when marking as ready: No concrete evidence for association with DCM.Created: 3 Aug 2020, 6:19 a.m. | Last Modified: 3 Aug 2020, 6:19 a.m.
Panel Version: 0.51
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: LiteratureCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Gene: dsc2 has been classified as Red List (Low Evidence).
Gene: dsc2 has been classified as Red List (Low Evidence).
gene: DSC2 was added gene: DSC2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSC2 were set to 21859740 Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476 Review for gene: DSC2 was set to AMBER gene: DSC2 was marked as current diagnostic