Gastrointestinal neuromuscular disease
Gene: DES
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
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
Gene: des has been classified as Green List (High Evidence).
Gene: des has been classified as Green List (High Evidence).
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