RNF213

ring finger protein 213
OMIM: 613768, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green RNF213 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.59
Latest signed off version: v2.2 (2 Mar 2020)

review 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