RNF213

ring finger protein 213
OMIM: 613768, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RNF213 in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green RNF213 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Susceptibility to Moyamoya disease 2, (MIM# 607151)

Green RNF213 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Moyamoya disease, MONDO:0016820
    • pediatric arterial ischemic stroke, MONDO:0018585

    Green RNF213 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Moyamoya disease, MONDO:0016820
    • pediatric arterial ischemic stroke, MONDO:0018585

    Green RNF213 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • susceptibility to Moyamoya disease 2, (MIM# 607151)