Retinal disorders
Gene: OTX2EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 16 panels
4 reviews
Eleanor Williams (Genomics England Curator)
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 hypoplasiaCreated: 30 Jul 2020, 2:03 p.m. | Last Modified: 30 Jul 2020, 2:03 p.m.
Panel Version: 2.14
Publications
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microphthalmia syndromic type 5 (MCOPS5)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Microphthalmia, syndromic 5, 610125
- early onset retinal dystrophy
- autosomal-dominant pattern dystrophy of the retinal pigment epithelium
- Retinal Dystrophy
- Eye Disorders
- OMIM
- 600037
- Clinvar variants
- Variants in OTX2
- Penetrance
- Complete
- Panels with this gene
-
- Deafness and congenital structural abnormalities
- Retinal disorders
- DDG2P
- Ocular coloboma
- Monogenic short stature
- Bilateral congenital or childhood onset cataracts
- IUGR and IGF abnormalities
- Structural eye disease
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Fetal anomalies
- Congenital hypothyroidism
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to OTX2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)OTX2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)OTX2 was created by ellenmcdonagh