RNF43

ring finger protein 43
OMIM: 612482, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RNF43 in Incidentalome


Version 1.2

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review
  • Literature
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Sessile serrated polyposis cancer syndrome, MONDO:0014919
  • Sessile serrated polyposis cancer syndrome, MIM#617108
  • Hereditary haemochromatosis, MONDO:0006507, RNF43-related

Red RNF43 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.1

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Hereditary haemochromatosis, MONDO:0006507, RNF43-related
    Tags
    • founder

    Green RNF43 in Colorectal Cancer and Polyposis


    Level 2: Cancer Predisposition
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    • Expert list
    Phenotypes
    • Colorectal cancer, MONDO:0005575
    • Polyposis, MONDO:0000147
    • Sessile serrated polyposis cancer syndrome, MONDO:0014919
    • Sessile serrated polyposis cancer syndrome, MIM#617108