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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1DD 613172 AD

Publications

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

History Filter Activity

28 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBM20 were set to

28 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RBM20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBM20 was added gene: RBM20 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RBM20 was set to Unknown