Retinal disordersGene: 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, 2:03 p.m. | Last Modified: 30 Jul 2020, 2:03 p.m.
Panel Version: 2.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Microphthalmia syndromic type 5 (MCOPS5)
Variants in this GENE are reported as part of current diagnostic practice
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Source NHS GMS was added to OTX2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
OTX2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
OTX2 was created by ellenmcdonagh