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 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

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

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Other
Phenotypes
  • {Moyamoya disease 2, susceptibility to}
OMIM
613768
Clinvar variants
Variants in RNF213
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RNF213 were set to

2 Dec 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RNF213 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Nov 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RNF213. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to RNF213.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RNF213.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RNF213 was created by ellenmcdonagh

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RNF213 was added to Cerebrovascular disorderspanel. Sources: Other,Expert list