EPHX1

epoxide hydrolase 1
OMIM: 132810, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green EPHX1 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary lipodystrophy, MONDO:0020087, EPHX1-related

Green EPHX1 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hereditary lipodystrophy, MONDO:0020087, EPHX1-related

Amber EPHX1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary lipodystrophy, MONDO:0020087, EPHX1-related

Red EPHX1 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hypercholanemia, familial

Red EPHX1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypercholanemia, familial

Red EPHX1 in Vitamin metabolism disorders


Level 2: Metabolic disorders
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Familial hypercholanemia MONDO:0011905
  • Other disorders of vitamin metabolism