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

3 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome like symptoms (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life. Moyamoya phenomenon was present in 10/13 individuals.
Created: 7 Dec 2023, 1:51 a.m. | Last Modified: 7 Dec 2023, 2:01 a.m.
Panel Version: 1.1403

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Moyamoya disease, MONDO:0016820; pediatric arterial ischemic stroke, MONDO:0018585

Publications

Ain Roesley (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: 29 Dec 2021, 5:12 a.m. | Last Modified: 29 Dec 2021, 5:12 a.m.
Panel Version: 0.10369

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

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

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

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}