Gastrointestinal neuromuscular disease
Gene: DESEnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Primarily skeletal and cardiac involvement but gut involvement with constipation/diarrhoea reported.
Sources: Expert listCreated: 31 Jul 2021, 1:41 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 1 , MIM#601419
Crystle Lee (Victorian Clinical Genetics Services)
Many missense variants previously reported. Myopathy or muscle weakness is a common feature, with mean age of onset being 35 (Review article: PMID: 20718792). Onset usually in second or third decades (OMIM). Can be AD or AR, with AR presenting with early and faster disease progression.Created: 17 Jun 2020, 3 a.m. | Last Modified: 17 Jun 2020, 3 a.m.
Panel Version: 0.69
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 1 (MIM#601419)
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Myopathy, myofibrillar, 1 , MIM#601419
- OMIM
- 125660
- Clinvar variants
- Variants in DES
- Penetrance
- None
- Panels with this gene
-
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Additional findings_Adult
- Arrhythmogenic Cardiomyopathy
- Additional findings_Paediatric
- Cardiomyopathy_Paediatric
- Gastrointestinal neuromuscular disease
- Mendeliome
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: des has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: des has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DES was added gene: DES was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DES were set to Myopathy, myofibrillar, 1 , MIM#601419 Review for gene: DES was set to GREEN