Ocular coloboma
Gene: OTX2

OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 16 panels

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

Panel Version: 1.36

Publications

32277752

Created: 30 Jul 2020, 2 p.m.
Last Modified: 30 Jul 2020, 2 p.m.
Panel version: 1.36

Alice Gardham (Genomics England)

Green List (high evidence)

Often causes microphthalmia but also associated with coloboma
Created: 16 Nov 2016, 12:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, syndromic 5, 610125

Publications

15846561, 18781617,24859618

Created: 16 Nov 2016, 12:09 p.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Literature
Radboud University Medical Center, Nijmegen

Phenotypes

Microphthalmia, syndromic 5, 610125

OMIM

600037

Clinvar variants

Variants in OTX2

Penetrance

Complete

Publications

15846561, 18781617,24859618

Panels with this gene