Arrhythmogenic cardiomyopathy

Gene: RBM20

Red List (low evidence)

RBM20 (RNA binding motif protein 20)
EnsemblGeneIds (GRCh38): ENSG00000203867
EnsemblGeneIds (GRCh37): ENSG00000203867
OMIM: 613171, Gene2Phenotype
RBM20 is in 6 panels

4 reviews

Ivone Leong (Genomics England Curator)

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

James Eden (Manchester)

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

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

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

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

Ellen McDonagh (Genomics England Curator)

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.

History Filter Activity

2 Dec 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172

2 Dec 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RBM20 were set to

20 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: RBM20 was added gene: RBM20 was added to Arrhythmogenic cardiomyopathy. Sources: London South GLH Mode of inheritance for gene: RBM20 was set to