Arrhythmogenic right ventricular cardiomyopathy
Gene: DES
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
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
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
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
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.
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.
Publications for gene: DES were set to 29567486
Publications for gene: DES were set to
Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
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
Source London South GLH was added to DES. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DES was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
DES was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: UKGTN
DES was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list