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  3. RNF213
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Cerebral vascular malformations

Gene: RNF213

Green List (high evidence)
RNF213 (ring finger protein 213)
EnsemblGeneIds (GRCh38): ENSG00000173821
EnsemblGeneIds (GRCh37): ENSG00000173821
OMIM: 613768, Gene2Phenotype
RNF213 is in 5 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Five different do novo variants identified in patients with Moyamoya disease. Additionally, there is a East Asian founder variant (c.14429G4A, p.(R4810K)) associated with Moyamoya disease.
Created: 11 Nov 2020, 12:57 a.m. | Last Modified: 11 Nov 2020, 12:57 a.m.
Panel Version: 0.6

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
susceptibility to Moyamoya disease 2, (MIM# 607151)

Publications

Created: 11 Nov 2020, 12:57 a.m.
Last Modified: 11 Nov 2020, 12:57 a.m.
Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • susceptibility to Moyamoya disease 2, (MIM# 607151)
OMIM
613768
Clinvar variants
Variants in RNF213
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf213 has been classified as Green List (High Evidence).

23 Jan 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNF213 were changed from {Moyamoya disease 2, susceptibility to} to susceptibility to Moyamoya disease 2, (MIM# 607151)

23 Jan 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNF213 were set to 21048783

23 Jan 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RNF213 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 May 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNF213 was added gene: RNF213 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RNF213 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RNF213 were set to 21048783 Phenotypes for gene: RNF213 were set to {Moyamoya disease 2, susceptibility to}