Neonatal cholestasis

Gene: ABCG5

Red List (low evidence)

ABCG5 (ATP binding cassette subfamily G member 5)
EnsemblGeneIds (GRCh38): ENSG00000138075
EnsemblGeneIds (GRCh37): ENSG00000138075
OMIM: 605459, Gene2Phenotype
ABCG5 is in 10 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.

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
unexplained cholestasis

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

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: abcg5 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: abcg5 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ABCG5 were set to 16614371; 29304564; 16741293

25 Jul 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ABCG5 were set to 16614371; 29304564

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: abcg5 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: ABCG5 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 ABCG5. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCG5 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ABCG5 was created by Ellen McDonagh