1. Panels
  2. Monogenic Diabetes
  3. EPHX1
STRs in panel
Prev Next
Regions in panel
Prev Next

Monogenic Diabetes

Gene: EPHX1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported with de novo variants in this gene and lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response. This KO also promoted oxidative stress and cellular senescence, an observation confirmed in patient-derived fibroblasts.
Sources: Literature
Created: 22 Aug 2021, 4:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary lipodystrophy, MONDO:0020087, EPHX1-related

Publications

Created: 22 Aug 2021, 4:36 a.m.

Panel version: 0.40

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
OMIM
132810
Clinvar variants
Variants in EPHX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related

22 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ephx1 has been classified as Amber List (Moderate Evidence).

22 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ephx1 has been classified as Amber List (Moderate Evidence).

22 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EPHX1 was added gene: EPHX1 was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: EPHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPHX1 were set to 34342583 Phenotypes for gene: EPHX1 were set to Lipoatrophic diabetes Review for gene: EPHX1 was set to AMBER