Dilated Cardiomyopathy
Gene: RBM20

RBM20 (RNA binding motif protein 20)
EnsemblGeneIds (GRCh38): ENSG00000203867
EnsemblGeneIds (GRCh37): ENSG00000203867
OMIM: 613171, Gene2Phenotype
RBM20 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 18 May 2021, 3:28 a.m. | Last Modified: 18 May 2021, 3:28 a.m.

Panel Version: 0.119

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1DD 613172 AD

Publications

33947203

Created: 18 May 2021, 3:28 a.m.
Last Modified: 18 May 2021, 3:28 a.m.
Panel version: 0.119

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1DD 613172 AD

Publications

30871351

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

Created: 28 Feb 2020, 4:14 a.m.
Last Modified: 28 Feb 2020, 4:14 a.m.
Panel version: 0.11

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, dilated, 1DD 613172 AD

OMIM

613171

Clinvar variants

Variants in RBM20

Penetrance

None

Publications

Panels with this gene