Sudden cardiac death - previous panel
Gene: DESEnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. 126 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with myofibrillar myopathy 1 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1I, (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, dilated, 1I,
- Cardiomyopathy, dilated, 1I, (604765)
- Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
- Myopathy, myofibrillar, 1 (601419)
- OMIM
- 125660
- Clinvar variants
- Variants in DES
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Paediatric or syndromic cardiomyopathy
- Ichthyosis and erythrokeratoderma
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DES was added gene: DES was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DES were set to 27532257; 20186049 Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I,; Cardiomyopathy, dilated, 1I, (604765); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400); Myopathy, myofibrillar, 1 (601419)