Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Early onset or syndromic epilepsy v2.255 TUBB2A Arina Puzriakova Publications for gene: TUBB2A were set to 24702957; 25326637
Early onset or syndromic epilepsy v2.254 TUBB2A Arina Puzriakova Phenotypes for gene: TUBB2A were changed from Cortical dysplasia, complex, with other brain malformations 5, 615763; infantile-onset epilepsy to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Early onset or syndromic epilepsy v2.129 TUBB2A Arina Puzriakova reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.267 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Early onset or syndromic epilepsy v1.267 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.267 TUBB2A Rebecca Foulger commented on gene: TUBB2A: Kept rating as Green based on post-Webex reviews from Helen Lord and Alison Callaway (West Midlands, Oxford and Wessex GLH).
Early onset or syndromic epilepsy v1.262 TUBB2A Rebecca Foulger commented on gene: TUBB2A: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.261 TUBB2A Helen Lord reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.256 TUBB2A Alison Callaway reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24702957; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.198 TUBB2A Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain: 3 unrelated cases from literature. Although not all with the genotype may develop seizures, there are sufficient cases of the epilepsy phenotype for inclusion on the panel.; to: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain: 3 unrelated cases from literature (two cases from PMID:24702957 and one from large-scale study PMID:25326637. Although not all with the genotype may develop seizures, there are sufficient cases of the epilepsy phenotype for inclusion on the panel.
Early onset or syndromic epilepsy v1.191 TUBB2A Rebecca Foulger Source Wessex and West Midlands GLH was added to TUBB2A.
Early onset or syndromic epilepsy v1.190 TUBB2A Rebecca Foulger Source NHS GMS was added to TUBB2A.
Early onset or syndromic epilepsy v1.189 TUBB2A Rebecca Foulger edited their review of gene: TUBB2A: 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: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TUBB2A Tracy Lester reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: 24702957; Phenotypes: Cortical dysplasia complex with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Added comment: Comment when marking as ready: Seizures are a reported phenotype of MIM:615763, with sufficient cases of seizures for inclusion on panel.
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Classified gene: TUBB2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain: 3 unrelated cases from literature. Although not all with the genotype may develop seizures, there are sufficient cases of the epilepsy phenotype for inclusion on the panel.
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.421 TUBB2A Rebecca Foulger gene: TUBB2A was added
gene: TUBB2A was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB2A were set to 24702957; 25326637
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, 615763; infantile-onset epilepsy
Added comment: TUBB2A added to panel based on PMID:24702957 (2014), which describes two unrelated individuals with infantile-onset epilepsy and abnormalities of brain morphology harbouring de novo variants in TUBB2A. A third patient is reported in the large-scale study PMID:25326637 (2014); an infant with DD, seizures, perisylvian polymicrogyria and micropcephaly with a de novo missense variant in TUBB2A.
Sources: Literature