Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: DES

Green List (high evidence)

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

4 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Myofibrillar myopathy is characterized by slowly progressive muscle weakness, from distal to proximal lower extremities
Created: 13 Apr 2023, 9:42 a.m. | Last Modified: 13 Apr 2023, 9:42 a.m.
Panel Version: 0.83

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Variable presentation, some overlap with LGMD.
Created: 1 Jul 2020, 7:45 a.m. | Last Modified: 1 Jul 2020, 7:45 a.m.
Panel Version: 0.39

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 20718792: large review of >100 patients. >70% had myopathy or muscle weakness, 67% presented with both distal and proximal muscle weakness.
Authors note myopathy generally begins with distal limbs, progressing later in life to proximal limb involvement.
Sources: Expert list
Created: 1 Jul 2020, 12:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 1 601419

Publications

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 1 601419
OMIM
125660
Clinvar variants
Variants in DES
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: des has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: des has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: DES was added gene: DES was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DES were set to PMID: 20718792 Phenotypes for gene: DES were set to Myopathy, myofibrillar, 1 601419 Review for gene: DES was set to AMBER