NR1H4

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NR1H4 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis, progressive familial intrahepatic 5, 617049
  • Cholestasis, Progressive Familial Intrahepatic 5
  • modifier of other genetic cholestatic conditions
  • ciliopathy

Green NR1H4 in Cholestasis


Version 1.110
Latest signed off version: v1.21 (20 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • ciliopathy
  • Cholestasis, Progressive Familial Intrahepatic 5
  • modifier of other genetic cholestatic conditions
  • Neonatal and Adult Cholestasis
  • Cholestasis, progressive familial intrahepatic 5, 617049

Green NR1H4 in Severe Paediatric Disorders


Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 5, 617049