Early onset or syndromic epilepsy
Gene: OTX2
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Established disease association is ocular malformations. Seizures in two families reported could be incidental (PMID 15846561, 19965921).Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia syndromic 5, 610125; Pituitary hormone deficiency combined, 613986; Retinal dystrophy early-onset with or without pituitary dysfunction, 610125
Publications
Seizures are sometimes a feature of this condition.Created: 18 Aug 2018, 8:42 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, syndromic 5 610125
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to OTX2.
Source NHS GMS was added to OTX2.
Zornitza Stark: Seizures are sometimes a featu
Gene: otx2 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to OTX2. Panel: Genetic Epilepsy Syndromes
OTX2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
OTX2 was created by Sarah Leigh