OTX2

orthodenticle homeobox 2
OMIM: 600037, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red OTX2 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green OTX2 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Microcephaly, bilateral anopthalmia, developmental delay, cleft palate
Green OTX2 in Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Version 1.37	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Bilateral Microtia Microphthalmia, syndromic 5 Agnathia-holoprosencephaly-situs inversus syndrome Otocephaly-Dysgnathia Complex
Green OTX2 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pituitary hormone deficiency, combined, 6 (613986) Microphthalmia, syndromic 5 (610125)
Red OTX2 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 5
Green OTX2 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Microphthalmia, syndromic 5, 610125
Green OTX2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 5
Green OTX2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 5 610125
Red OTX2 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Green OTX2 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes OTX2-Related Syndromic Microphthalmia Microphthalmia, syndromic 5, 610125 severe, bilateral cases
Amber OTX2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services
Green OTX2 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 5 (MCOPS5)
Green OTX2 in Congenital hypothyroidism Level 2: Endocrinology Version 3.3 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes GH, TSH, ACTH, LH, FSH deficiency Anophthalmia Retinal dystrophy normal or hypoplastic anterior pituitary ectopic posterior pituitary Pituitary hormone deficiency, combined, 6, 613986 Tags missense
Green OTX2 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Microphthalmia, syndromic 5, 610125 early onset retinal dystrophy autosomal-dominant pattern dystrophy of the retinal pigment epithelium Retinal Dystrophy Eye Disorders
Green OTX2 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes severe, bilateral cases OTX2-Related Syndromic Microphthalmia Microphthalmia, syndromic 5, 610125
Red OTX2 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Microcephaly, bilateral anopthalmia, developmental delay, cleft palate