Genetic Epilepsy
Gene: OTX2

OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 12 panels

2 reviews

Eleanor Williams (Genomics England)

Additional evidence - PMID: 32277752 - Bando et al 2020 report defects in the pituitary glands, mandibles and eyes of otx2b mutant fish that model the features of patients with OTX2 mutations. Otx2b deficiency causes reduced cell proliferation and increased apoptosis, resulting in organ hypoplasia.
Created: 30 Jul 2020, 1:56 p.m. | Last Modified: 30 Jul 2020, 1:56 p.m.

Panel Version: 0.3590

Publications

32277752

Created: 30 Jul 2020, 1:56 p.m.
Last Modified: 30 Jul 2020, 1:56 p.m.
Panel version: Imported from Mendeliome panel version 0.3590

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Link to epilepsy not well established, seizures are a rarely reported feature.
Created: 24 Jan 2020, 10:04 p.m. | Last Modified: 24 Jan 2020, 10:04 p.m.

Panel Version: 0.407

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, syndromic 5 610125

Publications

Created: 24 Jan 2020, 10:04 p.m.
Last Modified: 24 Jan 2020, 10:04 p.m.
Panel version: 0.407

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Microphthalmia, syndromic 5 610125

OMIM

600037

Clinvar variants

Variants in OTX2

Penetrance

None

Publications

Panels with this gene