Cholestasis

Gene: CYP7B1

Green List (high evidence)

At least three more families reported.

Created: 8 Aug 2020, 8:14 a.m. | Last Modified: 8 Aug 2020, 8:14 a.m.

Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 3, MIM# 613812

Publications

• 31337596
• 30366773

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.

Panel Version: 1.105

Comment 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 will be promoted to Green status at the next review.

Created: 29 Oct 2020, 2:38 p.m. | Last Modified: 29 Oct 2020, 2:38 p.m.

Panel Version: 1.54

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: CYP7B1; Suggested intial gene rating: Amber; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 7 Jan 2019, 4:42 p.m.

CYP7B1 is on the King's College Hospital NHS Foundation Trust cholestasis panel for Bile acid synthesis disorders

Created: 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.

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestasis