EPHX1

Red EPHX1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.65

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen

Phenotypes

• ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800

Red EPHX1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

Sources

• Expert Review Red
• UKGTN

Phenotypes

• ?Hypercholanemia, Familial 607748

Red EPHX1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen

Phenotypes

• ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800

Amber EPHX1 in Lipodystrophy - childhood onset

Version 4.50
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Amber
• NHS GMS
• Expert list

Phenotypes

• lipodystrophy, MONDO:0006573
• Insulin resistance, HP:0000855

Tags

• Q3_23_promote_green
• Q3_23_NHS_review

Red EPHX1 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• PAGE Additional Gene List

Phenotypes

• Hypercholanemia, familial
• ?Fetal hydantoin syndrome
• Diphenylhydantoin toxicity

Red EPHX1 in Growth failure in early childhood

Version 3.94
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800