Macular Dystrophy/Stargardt Disease
Gene: OTX2
OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 12 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- autosomal-dominant pattern dystrophy of the retinal pigment epithelium
- early onset retinal dystrophy
- Microphthalmia, syndromic 5, 610125
- OMIM
- 600037
- Clinvar variants
- Variants in OTX2
- Penetrance
- None
- Panels with this gene
-
- Congenital hypothyroidism
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Mendeliome
- BabyScreen+ newborn screening
- Macular Dystrophy/Stargardt Disease
- Pituitary hormone deficiency
- Mandibulofacial Acrofacial dysostosis
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Growth failure
History Filter Activity
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: OTX2 was added gene: OTX2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: OTX2 were set to autosomal-dominant pattern dystrophy of the retinal pigment epithelium; early onset retinal dystrophy; Microphthalmia, syndromic 5, 610125