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Early onset or syndromic epilepsy v3.19 TUBB2B 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
Early onset or syndromic epilepsy v1.191 TUBB2B Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBB2B.
Early onset or syndromic epilepsy v1.190 TUBB2B Rebecca Foulger Source NHS GMS was added to TUBB2B.
Early onset or syndromic epilepsy v1.189 TUBB2B 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
Early onset or syndromic epilepsy v1.188 TUBB2B Tracy Lester reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465910; Phenotypes: Cortical dysplasia complex with other brain malformations 7, 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Marked gene: TUBB2B as ready
Early onset or syndromic epilepsy v0.425 TUBB2B 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).
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Classified gene: TUBB2B as Green List (high evidence)
Early onset or syndromic epilepsy v0.425 TUBB2B 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.
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.424 TUBB2B Rebecca Foulger Publications for gene: TUBB2B were set to
Early onset or syndromic epilepsy v0.423 TUBB2B Rebecca Foulger commented on gene: TUBB2B
Early onset or syndromic epilepsy v0.423 TUBB2B Rebecca Foulger Mode of inheritance for gene: TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.422 TUBB2B Rebecca Foulger Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, 610031
Early onset or syndromic epilepsy TUBB2B Zornitza Stark reviewed gene: TUBB2B
Early onset or syndromic epilepsy TUBB2B Sarah Leigh Added gene to panel