Additional findings_Adult

Gene: RBM20

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 1DD MIM#613172 AD
OMIM
613171
Clinvar variants
Variants in RBM20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rbm20 has been classified as Green List (High Evidence).

4 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rbm20 has been classified as Green List (High Evidence).

4 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RBM20 was added gene: RBM20 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBM20 were set to 35802134 Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD MIM#613172 AD gene: RBM20 was marked as current diagnostic