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Early onset or syndromic epilepsy v1.191 TBCK Rebecca Foulger Source Wessex and West Midlands GLH was added to TBCK.
Early onset or syndromic epilepsy v1.190 TBCK Rebecca Foulger Source NHS GMS was added to TBCK.
Early onset or syndromic epilepsy v1.189 TBCK Rebecca Foulger edited their review of gene: TBCK: 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 TBCK Tracy Lester reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: ; Publications: 25558065, 27275012 ; Phenotypes: Hypotonia infantile with psychomotor retardation and characteristic facies 3, 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.712 TBCK Rebecca Foulger Marked gene: TBCK as ready
Early onset or syndromic epilepsy v0.712 TBCK Rebecca Foulger Gene: tbck has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.711 TBCK Rebecca Foulger Classified gene: TBCK as Green List (high evidence)
Early onset or syndromic epilepsy v0.711 TBCK Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review plus confirmed DD-G2P gene for Severe Infantile Syndromic Encephalopathy, which can present with seizures. Sufficient (>3) unrelated cases of seizures in PMID:27040692 and PMID:27040691 for inclusion on panel.
Early onset or syndromic epilepsy v0.711 TBCK Rebecca Foulger Gene: tbck has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.708 TBCK Rebecca Foulger commented on gene: TBCK: Bhoj et al. (2016, PMID:27040691) reported 13 patients from 9 unrelated families with IHPRF. Seven individuals from five families had seizures, and biallelic variants in TBCK.
Early onset or syndromic epilepsy v0.708 TBCK Rebecca Foulger commented on gene: TBCK
Early onset or syndromic epilepsy v0.708 TBCK Rebecca Foulger Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900; seizures
Early onset or syndromic epilepsy v0.707 TBCK Rebecca Foulger Publications for gene: TBCK were set to
Early onset or syndromic epilepsy v0.703 TBCK Rebecca Foulger Mode of inheritance for gene: TBCK was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.702 TBCK Rebecca Foulger Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,616900 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900
Early onset or syndromic epilepsy v0.700 TBCK Rebecca Foulger Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,616900
Early onset or syndromic epilepsy TBCK Zornitza Stark reviewed gene: TBCK
Early onset or syndromic epilepsy TBCK Sarah Leigh Added gene to panel