Corneal abnormalitiesGene: OVOL2
Comment on mode of pathogenicity: Variants within the reported to increased promoter activity.
Created: 22 Feb 2017, 11:11 a.m.
promoter region variants
Created: 7 Feb 2017, 5:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal dystrophy, posterior polymorphous, 1
Variants in this GENE are reported as part of current diagnostic practice
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for OVOL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for OVOL2 was changed to Other - please provide details in the comments
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for OVOL2 were set to Corneal dystrophy, posterior polymorphous, 1 122000
Publications for OVOL2 were set to 26749309
OVOL2 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel
OVOL2 was created by ellenmcdonagh