Neonatal cholestasis
Gene: CYP7B1Comment on list classification: The case described in PMID: 9802883 has already been reviewed by Ellen McDonagh (Genomics England Curator), 25 Jul 2018. Variant is CYP7B1 (R388X/R388X) and the individual is of Hispanic ancestry.
PMID: 18367963 and 31337596 describe 4 unrelated cases from Taiwan who all had the same variant (R112X/R112X). PMID: 31337596 found that the allele frequency of p.R112X is 0.16% in the Taiwanese populatio, compared with the allele frequency of the worldwide population (0.014%). All 4 had neonatal cholestasis.
PMID: 21567895 describes a Japanese patient with R112X/R417C with progressive cholestatic liver disease.
PMID: 24658845 describes a patient from a consanguineous Pakistani family with cholestatic liver disease with R417C/R417C.
There is enough evidence to support gene-disease association. This gene has been promoted from Amber to Green.Created: 29 Oct 2020, 2:39 p.m. | Last Modified: 29 Oct 2020, 2:39 p.m.
Panel Version: 1.5
CYP7B1 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
Phenotypes for gene: CYP7B1 were changed from Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 3 to Bile acid synthesis defect, congenital, 3, 613812; Neonatal and Adult Cholestasis
Publications for gene: CYP7B1 were set to 9802883
Gene: cyp7b1 has been classified as Green List (High Evidence).
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