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
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.
Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen.
Created: 14 Aug 2018, 10:11 a.m.
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.
cholestasis; primary biliary cirrhosis
Source: Expert Review Red was removed from gene: CYP7A1
Tag for-review tag was added to gene: CYP7A1.
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
Source Expert Review Green was added to CYP7A1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CYP7A1 was added gene: CYP7A1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: CYP7A1 was set to