Cardiomyopathies - including childhood onsetGene: DSG2
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 10, OMIM#610193; Cardiomyopathy, dilated, 1BB OMIM#612877
Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Lots of entries on HGMDPro for ARVC - including good evidence. Rasmussen Hum Mutat 00:19, 2013 presented a 12 family case series where two families had affected individuals of 17, 19 and 15 years of age with early onset ARVC.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to DSG2.
gene: DSG2 was added gene: DSG2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSG2 were set to Cardiomyopathy, dilated, 1BB,; Arrhythmogenic right ventricular dysplasia 10