Glaucoma (developmental)

Gene: OTX2

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, 2:04 p.m. | Last Modified: 30 Jul 2020, 2:04 p.m.

Panel Version: 1.9

Publications

• 32277752

Green List (high evidence)

DB Ragge et al. 2005 reported eight unrelated families, many others have been published since. Missense variants have been reported

Created: 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

• 15846561, 18781617,24859618

Mode of pathogenicity
Other - please provide details in the comments

Green List (high evidence)

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 reported

Created: 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

• 15846561
• 18781617
• 24859618

Mode of pathogenicity
Other - please provide details in the comments

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