Hypertrophic cardiomyopathy
Gene: DES
DES (desmin)
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels
2 reviews
Rebecca Whittington (South West GLH)
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, 17221859Created: 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)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert list
- OMIM
- 125660
- Clinvar variants
- Variants in DES
- Penetrance
- Complete
- Panels with this gene
-
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Paediatric or syndromic cardiomyopathy
- Progressive cardiac conduction disease
- Ichthyosis and erythrokeratoderma
- Arthrogryposis
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
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