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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 9802883; 31337596; 30366773; 18367963
Tag for-review tag was added to gene: CYP7B1.
Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).
Publications for gene: CYP7B1 were set to 9802883; 31337596; 30366773
Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis to Bile acid synthesis defect, congenital, 3, 613812; Neonatal and Adult Cholestasis
Publications for gene: CYP7B1 were set to 9802883
Source Other was added to CYP7B1. Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis for gene: CYP7B1 Publications for gene CYP7B1 were changed from to 9802883
Source Expert Review Amber was added to CYP7B1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: CYP7B1 was added gene: CYP7B1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: CYP7B1 was set to