Pituitary hormone deficiency

Gene: OTX2

Green List (high evidence)

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

0 reviews

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

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)