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Mendeliome

Gene: NR1H4

Green List (high evidence)

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, 11:02 a.m. | Last Modified: 1 Nov 2020, 11:02 a.m.
Panel Version: 0.5226

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
  • 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

History Filter Activity

1 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nr1h4 has been classified as Green List (High Evidence).

1 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NR1H4 were changed from to Cholestasis, progressive familial intrahepatic, 5, MIM# 617049

1 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NR1H4 were set to

1 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NR1H4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NR1H4 was added gene: NR1H4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NR1H4 was set to Unknown