Gastrointestinal neuromuscular disease

Gene: DES

Green List (high evidence)

DES (desmin)
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Primarily skeletal and cardiac involvement but gut involvement with constipation/diarrhoea reported.
Sources: Expert list
Created: 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)

Green List (high evidence)

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

History Filter Activity

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: des has been classified as Green List (High Evidence).

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: des has been classified as Green List (High Evidence).

31 Jul 2021, Gel status: 1

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