Arrhythmogenic right ventricular cardiomyopathy
Gene: RBM20
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red 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 is not tested on Manchester ARVC panel. Rated red for a focussed ARVC panelapp panel.Created: 27 Sep 2019, 8:38 a.m. | Last Modified: 27 Sep 2019, 8:38 a.m.
Panel Version: 1.36
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1DD 613172
Publications
On CGGL Royal Brompton ACM panel, pathogenic variants detected in DCM. On this panel as high burden of arrhythmias in RBM20-related DCMCreated: 18 Sep 2019, 10:53 p.m. | Last Modified: 18 Sep 2019, 10:53 p.m.
Panel Version: 1.36
Phenotypes
OMIM: 613172 Cardiomyopathy, dilated, 1DD
Publications
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.
Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172
Publications for gene: RBM20 were set to
gene: RBM20 was added gene: RBM20 was added to Arrhythmogenic cardiomyopathy. Sources: London South GLH Mode of inheritance for gene: RBM20 was set to