Corneal dystrophies

Gene: OVOL2

Green List (high evidence)

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

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel, variants within proximal promoter region
Created: 1 Apr 2019, 2:30 p.m.

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 1 122000
OMIM
616441
Clinvar variants
Variants in OVOL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: OVOL2 was added gene: OVOL2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: OVOL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OVOL2 were set to 26749309 Phenotypes for gene: OVOL2 were set to Corneal dystrophy, posterior polymorphous, 1 122000