Hypertrophic cardiomyopathy - teen and adultGene: DES
Myopathy, myofibrillar, 1 (601419 )
Created: 25 Mar 2019, 4:30 p.m.
3 DM variants associated with HCM on HGMD. Pubmed: 29167554, 29907873 with mixed phenotypes. Functional characterisation in 1 variant 21262226, 17221859
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source South West GLH was added to DES. Mode of inheritance for gene DES was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DES was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list