Arrhythmogenic right ventricular cardiomyopathy

Gene: RBM20

Red List (low evidence)

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

Red List (low evidence)

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

• 29650543
• 22466703
• 22561820

Green List (high evidence)

On CGGL Royal Brompton ACM panel, pathogenic variants detected in DCM. On this panel as high burden of arrhythmias in RBM20-related DCM

Created: 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

• 29650543
• 30482687

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.