Neonatal cholestasis

Gene: ABCG8

Red List (low evidence)

ABCG8 (ATP binding cassette subfamily G member 8)
EnsemblGeneIds (GRCh38): ENSG00000143921
EnsemblGeneIds (GRCh37): ENSG00000143921
OMIM: 605460, Gene2Phenotype
ABCG8 is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Evidence found for maternal cholestasis but not neonatal.
Created: 25 Jul 2018, 3 p.m.
Comment on list classification: PMID: 25798860 - decreased expression of ABCG8 mRNA expression in the livers of obstructive cholestatic patients.
Created: 25 Jul 2018, 2:57 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Phenotypes
intrahepatic cholestasis of pregnancy; gallstones

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Sitosterolemia 210250
  • intrahepatic cholestasis of pregnancy
OMIM
605460
Clinvar variants
Variants in ABCG8
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.

21 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: abcg8 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: abcg8 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: ABCG8 were set to Sitosterolemia 210250; intrahepatic cholestasis of pregnancy

25 Jul 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: ABCG8 were set to Sitosterolemia 210250

25 Jul 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ABCG8 were set to 16614371; 25798860

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: abcg8 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: ABCG8 were set to Sitosterolemia 210250

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ABCG8. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCG8 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ABCG8 was created by Ellen McDonagh