Liver Failure_Paediatric
Gene: NR1H4EnsemblGeneIds (GRCh38): ENSG00000012504
EnsemblGeneIds (GRCh37): ENSG00000012504
OMIM: 603826, Gene2Phenotype
NR1H4 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: Expert listCreated: 1 Nov 2020, 10:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis, progressive familial intrahepatic, 5, MIM# 617049
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cholestasis, progressive familial intrahepatic, 5, MIM# 617049
- OMIM
- 603826
- Clinvar variants
- Variants in NR1H4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nr1h4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nr1h4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NR1H4 was added gene: NR1H4 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NR1H4 were set to 26888176; 32443034 Phenotypes for gene: NR1H4 were set to Cholestasis, progressive familial intrahepatic, 5, MIM# 617049 Review for gene: NR1H4 was set to GREEN