Congenital hypothyroidism
Gene: OTX2EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene have been associated with pituitary hormone deficiency with or without microphthalmia, including of TSH.Created: 27 Mar 2023, 3:33 a.m. | Last Modified: 27 Mar 2023, 3:33 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pituitary hormone deficiency, combined, 6, MIM# 613986
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Pituitary hormone deficiency, combined, 6, MIM# 613986
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: otx2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: OTX2 were changed from GH, TSH, ACTH, LH, FSH deficiency; ectopic posterior pituitary; Anophthalmia Retinal dystrophy; normal or hypoplastic anterior pituitary; Pituitary hormone deficiency, combined, 6, 613986 to Pituitary hormone deficiency, combined, 6, MIM# 613986
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: OTX2 were set to 18628516; 26416826 (2015 review)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OTX2 was added gene: OTX2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 18628516; 26416826 (2015 review) Phenotypes for gene: OTX2 were set to GH, TSH, ACTH, LH, FSH deficiency; ectopic posterior pituitary; Anophthalmia Retinal dystrophy; normal or hypoplastic anterior pituitary; Pituitary hormone deficiency, combined, 6, 613986