Likely inborn error of metabolism
Gene: CYP7A1

CYP7A1 (cytochrome P450 family 7 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000167910
EnsemblGeneIds (GRCh37): ENSG00000167910
OMIM: 118455, Gene2Phenotype
CYP7A1 is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not associated with a disease in Gene2Phenotype or OMIM. Associated with Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency in Orphanet and there are 3 diagnostic labs linked to this. A variant was identified in an initial screen of the CYP7A1 gene in lipid clinic patients, in members of a family PMID: 12093894, however pre-screening for other hypercholesterolemia genes was not mentioned.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis); Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Publications

Created: 23 Feb 2017, 5:13 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Red

Phenotypes

Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis)
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

OMIM

118455

Clinvar variants

Variants in CYP7A1

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CYP7A1. Source London North GLH was added to CYP7A1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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