Rebecca Foulger commented on gene: TSEN2: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene should be rated Amber because epilepsy is unlikely to be the primary presenting feature. Demoted from Green to Amber.
Rebecca Foulger edited their review of gene: TSEN2: Added comment: 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: John Taylor and Helen Lord. Suggested gene rating: Amber. ; Changed rating: AMBER
Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Seizures are a clinical symptom of Pontocerebellar hypoplasia in some cases, and three patients with seizures and TSEN2 variants reported (PMID:23562994, 20952379).
Rebecca Foulger Added comment: Comment on phenotypes: Have updated phenotype to match OMIM. According to OMIM, MIM:617026 ( Pontocerebellar hypoplasia, type 2F) is caused by variants in TSEN15.