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Mendeliome

Gene: DES

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ARVC and mono-allelic variants: reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - MODERATE.
From PMID 33831308: DES was initially proposed as an ARVC gene based on data from 27 Dutch individuals in five families segregating a rare missense variant (NM_001927.4(DES):c.38C>T; p.Ser13Phe). Cases had right ventricular involvement consistent with ARVC but also conduction disease which is atypical for ARVC. Additional families carrying DES LP/P variants with a clinical ARVC diagnosis as well as families with left-predominant disease have been described. Experimental evidence including expression systems integrating variants found in these families showed phenotypic alterations consistent with histological examinations of skeletal and cardiac muscle of ARVC cases and disruption of cellular adhesion. Nonetheless, DES variants associated with ARVC appear to be very rare and have not been observed in some large ARVC cohorts.

DCM and mono-allelic variants: DEFINITIVE by ClinGen, more than 20 unrelated individuals reported, functional data.

Skeletal myopathy is adult-onset and can be both AD or AR.
Created: 7 May 2022, 8:08 a.m. | Last Modified: 7 May 2022, 8:08 a.m.
Panel Version: 0.13911

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1I, MIM# 604765
  • Myopathy, myofibrillar, 1 , MIM#601419
  • Arrhythmogenic right ventricular cardiomyopathy
OMIM
125660
Clinvar variants
Variants in DES
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DES was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 May 2022, 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).

7 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy

7 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DES were set to

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DES was added gene: DES was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DES was set to Unknown