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  3. RBM20
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Sudden cardiac death - previous panel

Gene: RBM20

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

2 reviews

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Molecular autopsy panel version 0.86

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 53 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, dilated, 1DD (613172)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: Imported from Molecular autopsy panel version 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1DD (613172)
  • Cardiomyopathy, dilated, 1DD
OMIM
613171
Clinvar variants
Variants in RBM20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: RBM20 was added gene: RBM20 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RBM20 were set to 27532257; 20186049 Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD (613172); Cardiomyopathy, dilated, 1DD