Cerebral vascular malformations
Gene: RNF213

RNF213 (ring finger protein 213)
EnsemblGeneIds (GRCh38): ENSG00000173821
EnsemblGeneIds (GRCh37): ENSG00000173821
OMIM: 613768, Gene2Phenotype
RNF213 is in 1 panel

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Expert opinion (Vijeya Ganesan) - relevant as a cause of Moya-Moya. Ian Berry (YNELGH) noted: Variant NM_001256071.2(RNF213):c.14429G>A / Chr17(GRCh37):g.78358945G>A / Chr17(GRCh38):g.80385145G>A is relevant for this phenotype, however overall gnomAD MAF is 0.024% but the “popmax” frequency (East Asians) is 0.27%. This will need to be considered, potentially for whitelisting, if this indication moves to WGS in the future depending on the thresholds used for filtering variants
Created: 29 Nov 2019, 7:01 p.m. | Last Modified: 29 Nov 2019, 7:01 p.m.

Panel Version: 1.67

Created: 29 Nov 2019, 7:01 p.m.
Last Modified: 29 Nov 2019, 7:01 p.m.
Panel version: 1.67

Alice Gardham (Genomics England)

I don't know

Variants in this gene confer an increased risk of developing Moyamoya rather than causing the disease
Created: 14 Dec 2016, 8:57 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Moyamoya disease 2, susceptibility to, 607151

Publications

21048783

Created: 14 Dec 2016, 8:57 a.m.

Panel version: 0.27

Ellen McDonagh (Genomics England Curator)

Sourced from OMIM.
Created: 8 Jan 2016, 2:05 p.m.

Created: 8 Jan 2016, 2:05 p.m.

Panel version: Imported from "Moyamoya disease" panel version 0.7

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Yorkshire and North East GLH
NHS GMS
Expert list
Other

Phenotypes

{Moyamoya disease 2, susceptibility to}, OMIM:607151

OMIM

613768

Clinvar variants

Variants in RNF213

Penetrance

Complete

Publications

21048783

Panels with this gene

Cerebral vascular malformations

History Filter Activity

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RNF213 were changed from {Moyamoya disease 2, susceptibility to} to {Moyamoya disease 2, susceptibility to}, OMIM:607151

2 Dec 2019, Gel status: 3