Incidentalome
Gene: DSC2reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - DEFINITIVECreated: 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
Variants in this GENE are reported as part of current diagnostic practice
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
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
Tag cardiac tag was added to gene: DSC2.
Gene: dsc2 has been classified as Green List (High Evidence).
Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
Publications for gene: DSC2 were set to
Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
gene: DSC2 was added gene: DSC2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSC2 was set to Unknown