Neonatal cholestasis
Gene: ABCG8Comment 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.
Phenotypes
intrahepatic cholestasis of pregnancy; gallstones
This panel has been subjected to extensive internal and external review.
Mode of inheritance for gene: ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: abcg8 has been classified as Red List (Low Evidence).
Gene: abcg8 has been classified as Red List (Low Evidence).
Phenotypes for gene: ABCG8 were set to Sitosterolemia 210250; intrahepatic cholestasis of pregnancy
Phenotypes for gene: ABCG8 were set to Sitosterolemia 210250
Publications for gene: ABCG8 were set to 16614371; 25798860
Gene: abcg8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ABCG8 were set to Sitosterolemia 210250
Victorian Clinical Genetics Services was added to ABCG8. Panel: Cholestasis
ABCG8 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
ABCG8 was created by Ellen McDonagh