Arrhythmogenic right ventricular cardiomyopathy
Gene: DESEnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels
8 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.
Panel Version: 1.45
James Eden (Manchester)
Gene not currently on Manchester ARVC panel. Some literature associating with ARVC.Created: 27 Sep 2019, 8:25 a.m. | Last Modified: 27 Sep 2019, 8:25 a.m.
Panel Version: 1.36
Mode of inheritance
Unknown
Phenotypes
Cardiomyopathy, dilated, 1I 604765; Myopathy, myofibrillar, 1 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type 181400
Publications
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On CGGL Royal Brompton Panel. Definitive association for myofibrillar myopathy, which has high burden of arrhythmias and conduction defects. Evidence for association with ARVC in 27532257. Only VUS reported from diagnostic panel so farCreated: 18 Sep 2019, 9:43 p.m. | Last Modified: 18 Sep 2019, 9:43 p.m.
Panel Version: 1.36
Phenotypes
OMIM 601419 Myopathy, myofibrillar,
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Whittington (South West GLH)
Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Myopathy, myofibrillar, 1 associated with cardiac abnormalities (AD/AR inheritance). Less common ARVC gene. Listed in review, rare cause <1% Pubmed: 30092956. HGMD, 2 DM variants, 1 with functional work.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
Bill Newman (Manchester Centre for Genomic Medicine)
Caroline Wright (Genomics England Curator)
Comment when marking as ready: GEL A&I reviewCreated: 15 Feb 2016, 1:09 p.m.
Comment on list classification: Definite cardiomyopathy geneCreated: 15 Feb 2016, 1:09 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- London South GLH
- Expert Review Green
- UKGTN
- Expert list
- Phenotypes
-
- Cardiomyopathy, dilated, 1I (604765)
- Myopathy, myofibrillar, 1 (601419)
- Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
- OMIM
- 125660
- Clinvar variants
- Variants in DES
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Progressive cardiac conduction disease
- Distal myopathies
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Hereditary neuropathy
- Arthrogryposis
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: DES were set to 29567486
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: DES were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to DES. Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to DES. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for DES was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DES was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)DES was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list