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  3. EPHX1
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Cytopenias and congenital anaemias

Gene: EPHX1

Red List (low evidence)
EPHX1 (epoxide hydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000143819
EnsemblGeneIds (GRCh37): ENSG00000143819
OMIM: 132810, Gene2Phenotype
EPHX1 is in 6 panels

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

mutations reported in only one case AND the phenotype is not relevant
Created: 9 Mar 2017, 4:31 p.m.

Phenotypes
Hypercholanemia, familial, 607748

Publications

Created: 9 Mar 2017, 4:31 p.m.

Panel version: 0.522

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

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EPHX1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

EPHX1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

EPHX1 was created by LouiseD