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  2. Anophthalmia_Microphthalmia_Coloboma
  3. OTX2
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Anophthalmia_Microphthalmia_Coloboma

Gene: OTX2

Green List (high evidence)
OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 30 Jul 2020, 11:44 p.m. | Last Modified: 30 Jul 2020, 11:44 p.m.
Panel Version: 0.59

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, syndromic 5, MIM# 610125

Publications

Created: 30 Jul 2020, 11:44 p.m.
Last Modified: 30 Jul 2020, 11:44 p.m.
Panel version: 0.59

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 5, MIM# 610125
OMIM
600037
Clinvar variants
Variants in OTX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otx2 has been classified as Green List (High Evidence).

30 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125

30 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OTX2 were set to

30 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OTX2 was added gene: OTX2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OTX2 was set to Unknown