Cardiomyopathies - including childhood onsetGene: DSC2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Arrhythmogenic right ventricular dysplasia 11 OMIM#610476;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair OMIM#610476
Created: 25 Mar 2019, 4:30 p.m.
Syrris Am. J. Hum. Genet. 2006;79:978984 - reported a 15 year old deceased with ARVC and a DSC2 variant. Literature: Dal Ferro 2017 - 1 LP vairant assoc with DCM. Some suggestion that can be associated with DCM but not strong.Though ARVC may present in LV or biventricular and may appear to be DCM. On Oxford DCM panel. HGMD: only 9 DSC2 variants assoc with DCM in HGMD and only 2 deemed DM, neither has freq on GnomAD. Summary: some evidence of gene associated with DCM but rare.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to DSC2.
gene: DSC2 was added gene: DSC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11