Hypertrophic cardiomyopathy - teen and adult

Gene: DES

Red List (low evidence)

DES (desmin)
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 16 panels

2 reviews

Rebecca Whittington (South West GLH)

I don't know

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

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DES was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list