Neonatal cholestasis

Gene: EPHX1

Red List (low evidence)

EPHX1 (epoxide hydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000143819
EnsemblGeneIds (GRCh37): ENSG00000143819
OMIM: 132810, Gene2Phenotype
EPHX1 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants reported, with cholestasis recorded in at least one untreated case.
Created: 14 Aug 2018, 12:01 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • ?Hypercholanemia, Familial 607748
OMIM
132810
Clinvar variants
Variants in EPHX1
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: ephx1 has been classified as Red List (Low Evidence).

14 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EPHX1 were set to 12704386

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: EPHX1 were set to ?Hypercholanemia, Familial 607748

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EPHX1 was added to Cholestasis panel. Sources: UKGTN

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

EPHX1 was created by Ellen McDonagh