OTX2

Red OTX2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

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 1.59

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 1.22

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 3.11
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

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 1.47

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 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MICROPHTHALMIA SYNDROMIC TYPE 5

Green OTX2 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MICROPHTHALMIA SYNDROMIC TYPE 5 610125

Red OTX2 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert

Green OTX2 in Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

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 3.88
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• Microcephaly, bilateral anopthalmia, developmental delay, cleft palate

Amber OTX2 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Amber
• Victorian Clinical Genetics Services

Green OTX2 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• MICROPHTHALMIA SYNDROMIC TYPE 5 (MCOPS5)

Green OTX2 in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.18
Latest signed off version: v2.2 (25 Feb 2020)

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 4.89
Latest signed off version: v4.0 (22 Mar 2023)

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 3.77
Latest signed off version: v3.0 (22 Mar 2023)

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 1.184

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