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  2. Anophthalmia or microphthalmia
  3. OTX2
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Anophthalmia or microphthalmia

Gene: OTX2

Green List (high evidence)
OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (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 hypoplasia.
Created: 30 Jul 2020, 2:01 p.m. | Last Modified: 30 Jul 2020, 2:01 p.m.
Panel Version: 1.25

Publications

Created: 30 Jul 2020, 2:01 p.m.
Last Modified: 30 Jul 2020, 2:01 p.m.
Panel version: 1.25

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert review
Created: 10 May 2016, 11:35 a.m.
Created: 10 May 2016, 11:35 a.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • OTX2-Related Syndromic Microphthalmia
  • Microphthalmia, syndromic 5, 610125
  • severe, bilateral cases
OMIM
600037
Clinvar variants
Variants in OTX2
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: Eligibility Statements for GeL

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

OTX2 was added to Anophthalmia/microphthalmiapanel. Sources: UKGTN