Neonatal cholestasis

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

3 reviews

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)

Phenotypes
cholestasis; primary biliary cirrhosis

Details

Sources
  • Expert Review Red
Phenotypes
  • Neonatal and Adult Cholestasis
OMIM
118455
Clinvar variants
Variants in CYP7A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

14 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cyp7a1 has been classified as Red List (Low Evidence).

14 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CYP7A1 were set to 29529257; 29498526

14 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CYP7A1 were set to 29529257

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP7A1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CYP7A1 was created by Ellen McDonagh