OTX2

orthodenticle homeobox 2
OMIM: 600037, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red OTX2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green OTX2 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.35

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 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Microphthalmia, syndromic 5
  • Agnathia-holoprosencephaly-situs inversus syndrome
  • Otocephaly-Dysgnathia Complex

Green OTX2 in Pituitary hormone deficiency


Version 2.6
Latest signed off version: v2.2 (3 Mar 2020)

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 Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.67
Latest signed off version: v2.2 (19 Feb 2020)

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 1.43

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


Version 1.638
Latest signed off version: v1.637 (30 Jun 2021)

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 2.21
Latest signed off version: v2.2 (13 Feb 2020)

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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.159
    Latest signed off version: v2.158 (29 Jun 2021)

    review Not set
    Sources
    • Expert

    Green OTX2 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.38

    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

    Red OTX2 in Growth failure in early childhood


    Version 1.58
    Latest signed off version: v1.4 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • Microcephaly, bilateral anopthalmia, developmental delay, cleft palate

    Amber OTX2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services

    Green OTX2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • MICROPHTHALMIA SYNDROMIC TYPE 5 (MCOPS5)

    Green OTX2 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.4
    Latest signed off version: v2.2 (25 Feb 2020)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.173
    Latest signed off version: v2.7 (25 Feb 2020)

    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


    Version 1.52
    Latest signed off version: v1.3 (4 Mar 2020)

    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

    Green OTX2 in Severe Paediatric Disorders


    Version 1.66

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microphthalmia, syndromic 5, 610125
    • Pituitary hormone deficiency, combined, 6, 613986
    • Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125