Neonatal cholestasis
Gene: ABCG5

ABCG5 (ATP binding cassette subfamily G member 5)
EnsemblGeneIds (GRCh38): ENSG00000138075
EnsemblGeneIds (GRCh37): ENSG00000138075
OMIM: 605459, Gene2Phenotype
ABCG5 is in 11 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene associated with Sitosterolemia which includes severely reduced Cholesterol biosynthesis. PMID: 29304564 - this gene was included in a panel of genes used to investigate patients with unexplained cholestasis. Several publications for evidence of role in biliary cholestrol secretion in mice. As the full text for this article is not available, unable to confirm whether variants were identified and validated in this gene for any of these patients. This gene is on the VCGS panel but not the King's Liver Disease panel. Could not find evidence for cases of neonatal cholestrolemia or liver failure.
Created: 25 Jul 2018, 2:49 p.m.

Created: 25 Jul 2018, 2:49 p.m.

Panel version: 0.179

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
unexplained cholestasis

Created: 16 Jun 2018, 8:56 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

OMIM

605459

Clinvar variants

Variants in ABCG5

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: ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 1