Structural eye disease
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 hypoplasiaCreated: 30 Jul 2020, 2:04 p.m. | Last Modified: 30 Jul 2020, 2:04 p.m.
Panel Version: 1.9
Publications
DB Ragge et al. 2005 reported eight unrelated families, many others have been published since. Missense variants have been reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
OTX2-Related Syndromic Microphthalmia; severe, bilateral cases; Microphthalmia, syndromic 5, 610125
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Ragge et al. 2005 reported eight unrelated families, many others have been published since. Missense variants have been reportedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
OTX2-Related Syndromic Microphthalmia; severe, bilateral cases; Microphthalmia, syndromic 5, 610125
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to OTX2. Mode of pathogenicity for gene OTX2 was changed from to Other - please provide details in the comments Added phenotypes severe, bilateral cases; OTX2-Related Syndromic Microphthalmia; Microphthalmia, syndromic 5, 610125 for gene: OTX2 Publications for gene OTX2 were changed from 15846561, 18781617,24859618 to 15846561; 24859618; 18781617
gene: OTX2 was added gene: OTX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 15846561, 18781617,24859618 Phenotypes for gene: OTX2 were set to OTX2-Related Syndromic Microphthalmia; severe, bilateral cases; Microphthalmia, syndromic 5, 610125