Pituitary hormone deficiency
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
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Pituitary hormone deficiency, combined, 6 (613986)
- Microphthalmia, syndromic 5 (610125)
- OMIM
- 600037
- Clinvar variants
- Variants in OTX2
- Penetrance
- None
- Publications
- 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
13 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: OTX2 was added gene: OTX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OTX2 were set to 19965921; 22715480; 18628516; 18728160 Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)