1. Genes and Genomic Entities
  2. RINT1

RINT1

RAD50 interactor 1
OMIM: 610089, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green RINT1 in Cholestasis


Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile liver failure syndrome 3 OMIM:618641
  • infantile liver failure syndrome 3 MONDO:0032844
Green RINT1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • liver failure
    • short stature
    • skeletal abnormalities
    • Infantile liver failure syndrome 3 OMIM:618641
    • infantile liver failure syndrome 3 MONDO:0032844
    Green RINT1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
    Green RINT1 in Paediatric disorders - additional genes


    Version 3.9
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Infantile liver failure syndrome 3 OMIM:618641
    • infantile liver failure syndrome 3 MONDO:0032844