Gene: CYP7A1

Green List (high evidence)

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

5 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

There appears to be a single case report from 1998. There are no pathogenic or likely pathogenic variants in ClinVar, and no disease association in OMIM.
Created: 8 Aug 2020, 8:06 a.m. | Last Modified: 8 Aug 2020, 8:06 a.m.
Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal



Ivone Leong (Genomics England Curator)

Green List (high evidence)

CYP7A1 is not associated with a relevant phenotype in OMIM or Gene2Phenotype. PMID: 9802883 describes a patient with severe cholestasis, cirrhosis, and liver synthetic failure and variants were found in CYP7B1. There were no variants found in CYP7A1. CYP7A1 is associated with Hypercholesterolemia on Orphanet.

Therefore, this gene should be demoted from Green to Red.
Created: 29 Oct 2020, 3:27 p.m. | Last Modified: 29 Oct 2020, 3:27 p.m.
Panel Version: 1.55
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: CYP7A1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen.
Created: 14 Aug 2018, 10:11 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

CYP7A1 is on the King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel for Bile acid synthesis disorders
Created: 25 Jul 2018, 4:29 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

cholestasis; primary biliary cirrhosis


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Other
  • Expert Review Green
  • Bile acid synthesis defect, congenital, 3
  • Neonatal and Adult Cholestasis
Clinvar variants
Variants in CYP7A1
Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 3

Clear Sources

Eleanor Williams (Genomics England Curator)

Source: Expert Review Red was removed from gene: CYP7A1

29 Oct 2020, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: CYP7A1.

14 Jan 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

Source Other was added to CYP7A1. Mode of inheritance for gene CYP7A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis for gene: CYP7A1 Publications for gene CYP7A1 were changed from to 9802883

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to CYP7A1. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CYP7A1 was added gene: CYP7A1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: CYP7A1 was set to