RINT1

RAD50 interactor 1
OMIM: 610089, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RINT1 in Mendeliome


Version 1.3795

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile liver failure syndrome 3, MIM# 618641
  • Hereditary spastic paraplegia, MONDO:0019064, RINT1-related

Green RINT1 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 1.129

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hereditary spastic paraplegia, MONDO:0019064, RINT1-related

    Green RINT1 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.30

    Component of the following Super Panels:

  • Liverome Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Infantile liver failure syndrome 3, MIM# 618641

    Red RINT1 in Breast Cancer


    Level 2: Cancer Predisposition
    Version 1.18

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • Hereditary breast carcinoma, MONDO:0016419
    Tags
    • refuted