Neonatal cholestasis
Gene: CYP7B1CYP7B1 is on the King's College Hospital NHS Foundation Trust cholestasis panel for Bile acid synthesis disordersCreated: 25 Jul 2018, 4:24 p.m.
Comment on list classification: A case reported of a 10-wk-old boy presenting with severe cholestasis, cirrhosis, and liver synthetic failure. Biochemical test revealed levels of 27-hydroxycholesterol > 4,500 times normal, indicated a defect in 7alpha-hydroxylation. A homozygous truncating variant in this gene was identified in the proband (heterozygous in the mother), which in vitro resulted in inactive enzyme. Literature search did not reveal further cases/family reports.Created: 25 Jul 2018, 9:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cholestasis
This panel has been subjected to extensive internal and external review.
Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).
Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).
Publications for gene: CYP7B1 were set to 9802883
Victorian Clinical Genetics Services was added to CYP7B1. Panel: Cholestasis
UKGTN was added to CYP7B1. Panel: Cholestasis Model of inheritance for gene CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene CYP7B1 were set to Neonatal and Adult Cholestasis, Bile acid synthesis defect, congenital, 3
CYP7B1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
CYP7B1 was created by Ellen McDonagh