RNF2

ring finger protein 2
OMIM: 608985, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber RNF2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lou-Schoch-Yamamoto syndrome , MIM#619460
  • epilepsy
  • intellectual disability
  • intrauterine growth retardation

Amber RNF2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Lou-Schoch-Yamamoto syndrome , MIM#619460
    • epilepsy
    • intellectual disability
    • intrauterine growth retardation

    Amber RNF2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lou-Schoch-Yamamoto syndrome , MIM#619460
    • epilepsy
    • intellectual disability
    • intrauterine growth retardation