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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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jan 2019, 10:40 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: NR1H4; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.
Created: 7 Jan 2019, 4:42 p.m.

Panel version: 0.3

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: Imported from Neonatal cholestasis 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: Imported from Neonatal cholestasis 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: Imported from Neonatal cholestasis panel version 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • ciliopathy
  • Cholestasis, Progressive Familial Intrahepatic 5
  • modifier of other genetic cholestatic conditions
  • Neonatal and Adult Cholestasis
  • Cholestasis, progressive familial intrahepatic 5, 617049
OMIM
603826
Clinvar variants
Variants in NR1H4
Penetrance
None
Panels with this gene

History Filter Activity

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Other was added to NR1H4. Mode of inheritance for gene NR1H4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ciliopathy; modifier of other genetic cholestatic conditions; Cholestasis, Progressive Familial Intrahepatic 5; Cholestasis, progressive familial intrahepatic 5, 617049; Neonatal and Adult Cholestasis for gene: NR1H4

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to NR1H4. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: NR1H4 was added gene: NR1H4 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: NR1H4 was set to