NR1H4

nuclear receptor subfamily 1 group H member 4
OMIM: 603826, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NR1H4 in Cholestasis


Level 2: Gastroenterological disorders
Version 0.240

Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 5, MIM# 617049

    Green NR1H4 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 5, MIM# 617049

    Green NR1H4 in Haem degradation and bilirubin metabolism defects


    Level 2: Metabolic disorders
    Version 0.17

    Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of bile acid metabolism
    • cholestasis, progressive familial intrahepatic, 5 MONDO:0014884

    Red NR1H4 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Cholestasis, infantile

    Green NR1H4 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 5, MIM# 617049

    Red NR1H4 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Cholestasis, infantile