Arrhythmogenic Cardiomyopathy
Gene: DESEnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 11 panels
2 reviews
Ivan Macciocca (Victorian Clinical Genetics Services)
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.Created: 27 May 2021, 5:39 a.m. | Last Modified: 27 May 2021, 5:39 a.m.
Panel Version: 0.51
Phenotypes
ARVC
Publications
- PMID: 33831308
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Assessed as MODERATE by ClinGen for ARVC, note phenotypes overlap DCM and skeletal myopathy. Multiple families reported, supportive in vitro studies.
Sources: Expert listCreated: 3 Aug 2020, 6:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cardiomyopathy, dilated, 1I, MIM# 604765
- Myopathy, myofibrillar, 1 , MIM#601419
- Arrhythmogenic right ventricular cardiomyopathy
- Tags
- OMIM
- 125660
- Clinvar variants
- Variants in DES
- Penetrance
- None
- Publications
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag for review tag was added to gene: DES.
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 publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DES was added gene: DES was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DES were set to 19879535; 20423733; 24200904; 22395865; 29212896; 23168288; 20829228 Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy Review for gene: DES was set to GREEN