Neonatal cholestasis
Gene: ABCG8

ABCG8 (ATP binding cassette subfamily G member 8)
EnsemblGeneIds (GRCh38): ENSG00000143921
EnsemblGeneIds (GRCh37): ENSG00000143921
OMIM: 605460, Gene2Phenotype
ABCG8 is in 10 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.

Created: 25 Jul 2018, 2:57 p.m.

Panel version: 0.187

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Phenotypes
intrahepatic cholestasis of pregnancy; gallstones

Created: 16 Jun 2018, 9:46 p.m.

Panel version: 0.18

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