Corneal abnormalities
Gene: OVOL2

OVOL2 (ovo like zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000125850
EnsemblGeneIds (GRCh37): ENSG00000125850
OMIM: 616441, Gene2Phenotype
OVOL2 is in 2 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Variants within the reported to increased promoter activity.
Created: 22 Feb 2017, 11:11 a.m.

Created: 22 Feb 2017, 11:11 a.m.

Panel version: 0.155

Chris Campbell (NHS)

Green List (high evidence)

promoter region variants
Created: 7 Feb 2017, 5:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, posterior polymorphous, 1

Publications

26749309

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
GDL Corneal Abnormalities panel

Phenotypes

Corneal dystrophy, posterior polymorphous, 1 122000

Tags

promoter

OMIM

616441

Clinvar variants

Variants in OVOL2

Penetrance

Complete

Publications

26749309

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 2