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Inborn errors of metabolism

Gene: CYP7A1

Red List (low evidence)

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

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
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

Ellen McDonagh (Genomics England Curator)

gene: CYP7A1 was added gene: CYP7A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7A1 were set to 27604308 Phenotypes for gene: CYP7A1 were set to Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis); Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency