Neonatal cholestasis
Gene: NR1H4Comment on phenotypes: added phenotypes from expert reviewCreated: 25 Jul 2018, 2:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis, progressive familial intrahepatic cholestasis; modifier of other genetic cholestatic conditions; ciliopathy
very few reported pathogenic variants; we have not found any patients with 2 NR1H4 variants (cohort of 150 patients)Created: 4 Jun 2018, 11:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cholestasis
Variants in this GENE are reported as part of current diagnostic practice
This panel has been subjected to extensive internal and external review.
Gene: nr1h4 has been classified as Green List (High Evidence).
Phenotypes for gene: NR1H4 were set to Neonatal and Adult Cholestasis; Cholestasis, progressive familial intrahepatic 5, 617049; Cholestasis, Progressive Familial Intrahepatic 5; modifier of other genetic cholestatic conditions; ciliopathy
Victorian Clinical Genetics Services was added to NR1H4. Panel: Cholestasis
UKGTN was added to NR1H4. Panel: Cholestasis Model of inheritance for gene NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene NR1H4 were set to Neonatal and Adult Cholestasis, Cholestasis, progressive familial intrahepatic 5, 617049, Cholestasis, Progressive Familial Intrahepatic 5
Radboud University Medical Center, Nijmegen was added to NR1H4. Panel: Cholestasis Phenotypes for gene NR1H4 were set to Neonatal and Adult Cholestasis, Cholestasis, progressive familial intrahepatic 5, 617049
NR1H4 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
NR1H4 was created by Ellen McDonagh