Anophthalmia or microphthalmia
Gene: OTX2Additional 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, 2:01 p.m. | Last Modified: 30 Jul 2020, 2:01 p.m.
Panel Version: 1.25
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Known expert reviewCreated: 10 May 2016, 11:35 a.m.
This gene has been classified as Green List (High Evidence).
OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Eligibility statement prior genetic testing
OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen
OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory
OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Eligibility Statements for GeL
OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: UKGTN