Arina Puzriakova Phenotypes for gene: TUBB2B were changed from Cortical dysplasia, complex, with other brain malformations 7, 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Rebecca Foulger edited their review of gene: TUBB2B: 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: Green. ; Changed rating: AMBER
Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM, and seizures associated with at least three variants in unrelated cases (PMIDs:19465910 and 22333901).
Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: >3 patients with heterozygous TUBB2B variants exhibited seizures as part of brain malformation disorder.