Neonatal cholestasis
Gene: CYP7B1

CYP7B1 (cytochrome P450 family 7 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 13 panels

4 reviews

Ivone Leong (Genomics England Curator)

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 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

Created: 29 Oct 2020, 2:39 p.m.
Last Modified: 29 Oct 2020, 2:39 p.m.
Panel version: 1.5

Louise Daugherty (Genomics England Curator)

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.

Created: 25 Jul 2018, 4:24 p.m.

Panel version: 0.223

Ellen McDonagh (Genomics England Curator)

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.

Created: 25 Jul 2018, 9:57 a.m.

Panel version: 0.40

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestasis

Created: 16 Jun 2018, 8:51 p.m.

Panel version: 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
UKGTN
Emory Genetics Laboratory

Phenotypes

Bile acid synthesis defect, congenital, 3, 613812
Neonatal and Adult Cholestasis

OMIM

603711

Clinvar variants

Variants in CYP7B1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Oct 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

29 Oct 2020, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CYP7B1 were set to 9802883

29 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cyp7b1 has been classified as Green List (High Evidence).

3 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 2