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Neonatal cholestasis

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 2 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotypes from expert review
Created: 25 Jul 2018, 2:12 p.m.
Created: 25 Jul 2018, 2:12 p.m.

Panel version: 0.142

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic cholestasis; modifier of other genetic cholestatic conditions; ciliopathy

Created: 16 Jun 2018, 5:18 p.m.

Panel version: 0.18

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

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

Created: 4 Jun 2018, 11:51 a.m.

Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis, progressive familial intrahepatic 5, 617049
  • Cholestasis, Progressive Familial Intrahepatic 5
  • modifier of other genetic cholestatic conditions
  • ciliopathy
OMIM
603826
Clinvar variants
Variants in NR1H4
Penetrance
None
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

21 Jun 2018, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NR1H4. Panel: Cholestasis

18 May 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

18 May 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NR1H4 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NR1H4 was created by Ellen McDonagh