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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Possible.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as Uncertain.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Hypercholanemia, familial
  • ?Fetal hydantoin syndrome
  • Diphenylhydantoin toxicity
OMIM
132810
Clinvar variants
Variants in EPHX1
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ?Fetal hydantoin syndrome for gene: EPHX1

8 Nov 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Hypercholanemia, familial for gene: EPHX1

8 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: EPHX1 was added gene: EPHX1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: EPHX1 was set to Unknown Phenotypes for gene: EPHX1 were set to Diphenylhydantoin toxicity