Ocular coloboma

Gene: OTX2

Green List (high evidence)

OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 17 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

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

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
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

16 Nov 2016, Gel status: 4

Changed Gene Name

Alice Gardham (Genomics England)

OTX2-AS1 was changed to OTX2

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

OTX2-AS1 was added to Ocular colobomapanel. Sources: Literature,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

OTX2-AS1 was created by agardham