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Early onset or syndromic epilepsy v1.191 TUBB3 Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBB3.
Early onset or syndromic epilepsy v1.190 TUBB3 Rebecca Foulger Source NHS GMS was added to TUBB3.
Early onset or syndromic epilepsy v1.189 TUBB3 Rebecca Foulger edited their review of gene: TUBB3: 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 TUBB3 Tracy Lester reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28503613, 28378416, 26639658; Phenotypes: Cortical dysplasia complex with other brain malformations 1, 614039, Fibrosis of extraocular muscles congenital 3A, 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.420 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227; 26130693
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Marked gene: TUBB3 as ready
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM, and seizures associated with at least three unrelated cases (see PMID:25008804).
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Classified gene: TUBB3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 1 Green expert review plus at least 3 patients with TUBB3 variants showing seizures.
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.418 TUBB3 Rebecca Foulger commented on gene: TUBB3
Early onset or syndromic epilepsy v0.418 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227
Early onset or syndromic epilepsy v0.417 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to
Early onset or syndromic epilepsy v0.416 TUBB3 Rebecca Foulger Mode of inheritance for gene: TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.415 TUBB3 Rebecca Foulger Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, 614039
Early onset or syndromic epilepsy TUBB3 Zornitza Stark reviewed gene: TUBB3
Early onset or syndromic epilepsy TUBB3 Sarah Leigh Added gene to panel