OTX2

orthodenticle homeobox 2
OMIM: 600037, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green OTX2 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 5, MIM# 610125
Amber OTX2 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Otocephaly-dysgnathia complex
Green OTX2 in Mendeliome Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 5, MIM# 610125 Pituitary hormone deficiency, combined, 6, MIM# 613986 Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125
Amber OTX2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Microphthalmia, syndromic 5 610125
Green OTX2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green OTX2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Microphthalmia, syndromic 5, MIM# 610125 Pituitary hormone deficiency, combined, 6, MIM# 613986 Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125 Otocephaly-dysgnathia complex
Green OTX2 in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 1.0	0 reviews	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
Green OTX2 in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	1 review	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)
Green OTX2 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 6, MIM# 613986
Green OTX2 in Growth failure Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 6, MIM# 613986 Microphthalmia, syndromic 5, MIM# 610125
Green OTX2 in Fetal anomalies Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 5, MIM# 610125
Green OTX2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Pituitary hormone deficiency, combined, 6, MIM# 613986 Tags treatable endocrine
Green OTX2 in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 6 (613986) Microphthalmia, syndromic 5 (610125)
Green OTX2 in Adrenal insufficiency Level 3: Adrenal disorders Level 2: Endocrine disorders Version 1.0	1 review	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)