Cerebral vascular malformations
Gene: RNF213
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
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
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
Gene: rnf213 has been classified as Green List (High Evidence).
Phenotypes for gene: RNF213 were changed from {Moyamoya disease 2, susceptibility to} to susceptibility to Moyamoya disease 2, (MIM# 607151)
Publications for gene: RNF213 were set to 21048783
Mode of inheritance for gene: RNF213 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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}