Neonatal cholestasis

Gene: GPBAR1

Red List (low evidence)

GPBAR1 (G protein-coupled bile acid receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000179921
EnsemblGeneIds (GRCh37): ENSG00000179921
OMIM: 610147, Gene2Phenotype
GPBAR1 is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen.
Created: 14 Aug 2018, 3:03 p.m.
Comment on publications: Murine models of cholestasis
Created: 14 Aug 2018, 3:02 p.m.

Details

Sources
  • Expert Review Red
Phenotypes
  • Neonatal and Adult Cholestasis
OMIM
610147
Clinvar variants
Variants in GPBAR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

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

14 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gpbar1 has been classified as Red List (Low Evidence).

14 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GPBAR1 were set to 26177448; 16724960

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GPBAR1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GPBAR1 was created by Ellen McDonagh