Rebecca Foulger edited their review of gene: TSEN34: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. Probable DD-G2P gene for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4. One PCH2 patient with seizures and TSEN34 variant reported in PMID:20952379 (probably the same patient as from PMID:18711368/Budde et al 2008).