Dilated Cardiomyopathy and conduction defects
Gene: DSC2
Arrhythmogenic right ventricular dysplasia 11 OMIM#610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair OMIM#610476Created: 25 Mar 2019, 4:30 p.m.
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. HGMD: only 9 DSC2 variants assoc with DCM in HGMD and only 2 deemed DM, neither has freq on GnomAD.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
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Source South West GLH was added to DSC2. Mode of inheritance for gene DSC2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to DSC2.
DSC2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list