IUGR and IGF abnormalities

Gene: EPHX1

Red List (low evidence)

EPHX1 (epoxide hydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000143819
EnsemblGeneIds (GRCh37): ENSG00000143819
OMIM: 132810, Gene2Phenotype
EPHX1 is in 4 panels

3 reviews

Mehul Dattani (UCL Institute of Child Health)

Red List (low evidence)

Philip Murray (University of Manchester)

Red List (low evidence)

Peter Clayton (University of Manchester)

Red List (low evidence)

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800
OMIM
132810
Clinvar variants
Variants in EPHX1
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

EPHX1 was added to IUGR and IGF abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen