RINT1

RAD50 interactor 1
OMIM: 610089, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red RINT1 in Cholestasis


Level 2: Gastrohepatology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Literature
Phenotypes
  • Infantile liver failure syndrome 3 OMIM:618641
  • infantile liver failure syndrome 3 MONDO:0032844
Green RINT1 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.30
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • hereditary spastic paraplegia, MONDO:0019064
Green RINT1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

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
    Amber RINT1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Infantile liver failure syndrome 3 OMIM:618641
    Green RINT1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    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