Distal myopathies
Gene: DESEnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Mutations in DES can cause a distal myopathy phenotypeCreated: 20 Feb 2017, 12:30 p.m.
Can present with cardiomyopathy. Mutations in the 2B domain are predominant in patients with an isolated neurologic phenotype, whereas head and tail domain mutations are predominant in patients with an isolated cardiac phenotypeCreated: 31 Jan 2017, 5:24 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar 1, 601419
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Myopathy, myofibrillar 1, 601419
- OMIM
- 125660
- Clinvar variants
- Variants in DES
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for DES were set to Myopathy, myofibrillar 1, 601419
Set publications
Arianna Tucci (Genomics England Curator)Publications for DES were set to 20718792
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for DES was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DES was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing