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Likely inborn error of metabolism

Gene: CYP7B1

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

1 review

Sarah Leigh (Genomics England Curator)

Treatable tag: the only surviving patient with oxysterol 7α-hydroxylase deficiency recovered from liver failure after chenodeoxycholic acid (CDCA) treatment beginning at 3 months of age PMID: 31337596
Created: 19 Sep 2019, 2:47 p.m. | Last Modified: 19 Sep 2019, 2:47 p.m.
Panel Version: 1.267
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is a more relevant phenotype for metabolic panels.
Created: 12 Aug 2019, 2:39 p.m. | Last Modified: 19 Sep 2019, 2:39 p.m.
Panel Version: 1.266
Created: 12 Aug 2019, 2:39 p.m.
Last Modified: 19 Sep 2019, 2:39 p.m.
Panel version: 1.267

History Filter Activity

19 Sep 2019, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag treatable tag was added to gene: CYP7B1.

19 Sep 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CYP7B1 were set to 27604308; 9802883; 18252231; 19187859

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CYP7B1 were set to 27604308; 9802883

12 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3 to Bile acid synthesis defect, congenital, 3 613812; Spastic paraplegia 5A, autosomal recessive 270800

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CYP7B1. Source London North GLH was added to CYP7B1.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CYP7B1 was added gene: CYP7B1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 27604308; 9802883 Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3