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Early onset or syndromic epilepsy v1.191 TUBA1A Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBA1A.
Early onset or syndromic epilepsy v1.190 TUBA1A Rebecca Foulger Source NHS GMS was added to TUBA1A.
Early onset or syndromic epilepsy v1.189 TUBA1A Rebecca Foulger edited their review of gene: TUBA1A: 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 TUBA1A Tracy Lester reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 17584854, 18954413 ; Phenotypes: Lissencephaly 3, 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Marked gene: TUBA1A as ready
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant seizure phenotypes in OMIM, with sufficient (>3) unrelated cases reporting seizures.
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Gene: tuba1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Classified gene: TUBA1A as Green List (high evidence)
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Lissencephaly 3 (611603) which includes seizures in some patients. Seizures are associated with at least three variants in unrelated cases (PMIDs:17218254, 17584854, 18954413, 21403111, 22948023).
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Gene: tuba1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.436 TUBA1A Rebecca Foulger Mode of inheritance for gene: TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.435 TUBA1A Rebecca Foulger Publications for gene: TUBA1A were set to
Early onset or syndromic epilepsy v0.434 TUBA1A Rebecca Foulger Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, 611603
Early onset or syndromic epilepsy TUBA1A Zornitza Stark reviewed gene: TUBA1A
Early onset or syndromic epilepsy TUBA1A Sarah Leigh Added gene to panel