Neonatal cholestasis

Gene: CYP7B1

Amber List (moderate evidence)

CYP7B1 (cytochrome P450 family 7 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 12 panels

3 reviews

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.

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.

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestasis

History Filter Activity

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

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: CYP7B1 were set to 9802883

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CYP7B1. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP7B1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CYP7B1 was created by Ellen McDonagh