1. Genes and Genomic Entities
  2. RNF2

RNF2

ring finger protein 2
OMIM: 608985, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber RNF2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.7
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Luo-Schoch-Yamamoto syndrome, OMIM:619460
  • Luo-Schoch-Yamamoto syndrome, MONDO:0859171
Amber RNF2 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 9.5
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Luo-Schoch-Yamamoto syndrome, OMIM:619460
    • Luo-Schoch-Yamamoto syndrome, MONDO:0859171
    Amber RNF2 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.16
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Luo-Schoch-Yamamoto syndrome, OMIM:619460
    • Luo-Schoch-Yamamoto syndrome, MONDO:0859171