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Early onset or syndromic epilepsy v2.487 CSNK2B Sarah Leigh Phenotypes for gene: CSNK2B were changed from Myoclonic epilepsy and intellectual disability to Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732; Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889
Early onset or syndromic epilepsy v2.0 CSNK2B Louise Daugherty Tag watchlist was removed from gene: CSNK2B.
Early onset or syndromic epilepsy v2.0 CSNK2B Louise Daugherty commented on gene: CSNK2B
Early onset or syndromic epilepsy v1.191 CSNK2B Rebecca Foulger Source Wessex and West Midlands GLH was added to CSNK2B.
Early onset or syndromic epilepsy v1.190 CSNK2B Rebecca Foulger Source NHS GMS was added to CSNK2B.
Early onset or syndromic epilepsy v1.189 CSNK2B Rebecca Foulger edited their review of gene: CSNK2B: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 CSNK2B Tracy Lester reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28762608, 28585349 ; Phenotypes: Intellectual disability with or without myoclonic epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.79 CSNK2B Rebecca Foulger Classified gene: CSNK2B as Green List (high evidence)
Early onset or syndromic epilepsy v1.79 CSNK2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on recent 2019 paper, PMID:30655572, which reports two further unrelated cases (Japanese and Malaysian) of de novo CSNK2B variants in patients with epilepsy. Although CSNK2B is still not associated with a disorder in OMIM or Gene2Phenotype, this takes the count from two to four cases (from 3 different papers) and is therefore sufficient for a Green rating on this panel.
Early onset or syndromic epilepsy v1.79 CSNK2B Rebecca Foulger Gene: csnk2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.78 CSNK2B Rebecca Foulger commented on gene: CSNK2B: PMID:30655572: Nakashima et al, 2019 describe 4 patients with ID, DD and seizures. Two of the patients had variants in CSNK2B: c.533_534insGT, p.(Pro179Tyrfs*49) in Malaysian Patient 3, and c.494A>G, p.(His165Arg) in Japanese Patient 4. Both had seizures within 2 months of age. Both variants occurred de novo. In each patient, only 1 likely candidate variant was proposed. Functional assays suggested that Pro179Tyrfs*49 mutant protein was produced but showed disrupted interaction with CSNK2A1.
Early onset or syndromic epilepsy v1.78 CSNK2B Rebecca Foulger Publications for gene: CSNK2B were set to 28762608; 28585349; 27094248
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Marked gene: CSNK2B as ready
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Added comment: Comment when marking as ready: Marked as Ready: November 19th 2018.
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Gene: csnk2b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger commented on gene: CSNK2B: Added watchlist tag.
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Tag watchlist tag was added to gene: CSNK2B.
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Classified gene: CSNK2B as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: As summarised by Zornitza, currently 2 epileptic patients with de novo CSNK2B variants (PMID:28762608 and PMID:28585349). The third patient was reported with intellectual disability but not epilepsy. At least one further epileptic case required for diagnostic rating.
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Gene: csnk2b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.942 CSNK2B Rebecca Foulger commented on gene: CSNK2B
Early onset or syndromic epilepsy v0.942 CSNK2B Rebecca Foulger Phenotypes for gene: CSNK2B were changed from to Myoclonic epilepsy and intellectual disability
Early onset or syndromic epilepsy v0.941 CSNK2B Rebecca Foulger Publications for gene: CSNK2B were set to
Early onset or syndromic epilepsy v0.940 CSNK2B Rebecca Foulger Mode of inheritance for gene: CSNK2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy CSNK2B Zornitza Stark reviewed gene: CSNK2B
Early onset or syndromic epilepsy CSNK2B Sarah Leigh Added gene to panel