Structural eye disease
Gene: OTX2EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 16 panels
3 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, 2:04 p.m. | Last Modified: 30 Jul 2020, 2:04 p.m.
Panel Version: 1.9
Publications
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- severe, bilateral cases
- OTX2-Related Syndromic Microphthalmia
- Microphthalmia, syndromic 5, 610125
- OMIM
- 600037
- Clinvar variants
- Variants in OTX2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Deafness and congenital structural abnormalities
- DDG2P
- Intellectual disability
- Ocular coloboma
- Monogenic short stature
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- IUGR and IGF abnormalities
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Congenital hypothyroidism
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
History Filter Activity
Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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