Neonatal cholestasis
Gene: ABCG5Comment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
unexplained cholestasis
This panel has been subjected to extensive internal and external review.
Mode of inheritance for gene: ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: abcg5 has been classified as Red List (Low Evidence).
Gene: abcg5 has been classified as Red List (Low Evidence).
Publications for gene: ABCG5 were set to 16614371; 29304564; 16741293
Publications for gene: ABCG5 were set to 16614371; 29304564
Gene: abcg5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ABCG5 were set to Sitosterolemia 210250
Victorian Clinical Genetics Services was added to ABCG5. Panel: Cholestasis
ABCG5 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
ABCG5 was created by Ellen McDonagh