Cholestasis
Gene: CYP7A1EnsemblGeneIds (GRCh38): ENSG00000167910
EnsemblGeneIds (GRCh37): ENSG00000167910
OMIM: 118455, Gene2Phenotype
CYP7A1 is in 4 panels
6 reviews
Catherine Snow (Genomics England)
The rating of this gene has been updated to RED following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 2:01 p.m. | Last Modified: 31 Jan 2023, 2:01 p.m.
Panel Version: 2.3
Zornitza Stark (Australian Genomics)
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
Phenotypes
Cholestasis
Publications
Ivone Leong (Genomics England Curator)
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 givenCreated: 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)
CYP7A1 is on the King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel for Bile acid synthesis disordersCreated: 25 Jul 2018, 4:29 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Phenotypes
cholestasis; primary biliary cirrhosis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- NHS GMS
- Phenotypes
-
- Bile acid synthesis defect, congenital, 3
- Neonatal and Adult Cholestasis
- OMIM
- 118455
- Clinvar variants
- Variants in CYP7A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Catherine Snow (Genomics England)Tag for-review was removed from gene: CYP7A1. Tag gene-checked was removed from gene: CYP7A1.
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Red was added to CYP7A1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag gene-checked tag was added to gene: CYP7A1.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CYP7A1 were set to 9802883
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Red was removed from gene: CYP7A1
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: CYP7A1.
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
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)
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