Genomics England
GMS Panels
Panels
Genes and Entities

NR1H4

nuclear receptor subfamily 1 group H member 4
OMIM: 603826
PanelMode of inheritanceDetails
1 panel
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ciliopathy, Cholestasis, Progressive Familial Intrahepatic 5, modifier of other genetic cholestatic conditions, Neonatal and Adult Cholestasis, Cholestasis, progressive familial intrahepatic 5, 617049