Cholestasis
Gene: NR1H4

NR1H4 (nuclear receptor subfamily 1 group H member 4)
EnsemblGeneIds (GRCh38): ENSG00000012504
EnsemblGeneIds (GRCh37): ENSG00000012504
OMIM: 603826, Gene2Phenotype
NR1H4 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy. At least 5 unrelated families reported.
Created: 1 Nov 2020, 11 a.m. | Last Modified: 1 Nov 2020, 11 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic, 5, MIM# 617049

Publications

Created: 1 Nov 2020, 11 a.m.
Last Modified: 1 Nov 2020, 11 a.m.
Panel version: 0.183

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cholestasis, progressive familial intrahepatic, 5, MIM# 617049

OMIM

603826

Clinvar variants

Variants in NR1H4

Penetrance

None

Publications

Panels with this gene