Early onset or syndromic epilepsy
Gene: CSNK2BAs a result of watchlist tag audit the watchlist tag was removed from CSNK2B- this is now a green gene with sufficient evidence/reviewCreated: 13 Jan 2020, 1:32 p.m. | Last Modified: 13 Jan 2020, 1:32 p.m.
Panel Version: 2.0
Appears to be associated with epilepsy but only a small number of variants reported to date.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability with or without myoclonic epilepsy
Publications
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.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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.Created: 27 Jun 2019, 4:19 p.m. | Last Modified: 27 Jun 2019, 4:19 p.m.
Panel Version: 1.79
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.Created: 27 Jun 2019, 4:16 p.m. | Last Modified: 27 Jun 2019, 4:16 p.m.
Panel Version: 1.78
Comment when marking as ready: Marked as Ready: November 19th 2018.Created: 19 Nov 2018, 8:36 p.m.
Added watchlist tag.Created: 19 Nov 2018, 8:35 p.m.
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.Created: 19 Nov 2018, 8:35 p.m.
PMID:28585349 (Poirier et al., 2017) report 2 individuals with ID: Patient 2 exhibited myoclonic epilepsy whereas Patient 1 did not. Two different de novo splice-site variants in CSNK2B were identified in the patients (c.175+2T>G in the patient with epilepsy).
PMID:28762608 (Sakaguchi et al 2017) report a further epileptic patient: a male with ID and myoclonic epilepsy beginning during infancy who was found to have a de novo frameshift variant in CSNK2B (SCV000583466.1).Created: 19 Nov 2018, 8:33 p.m.
Three unrelated patients reported with de novo truncating variants in this gene, two of the three had myoclonic epilepsy.Created: 12 Aug 2018, 5:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myoclonic epilepsy and intellectual disability
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Tag watchlist was removed from gene: CSNK2B.
Source Wessex and West Midlands GLH was added to CSNK2B.
Source NHS GMS was added to CSNK2B.
Gene: csnk2b has been classified as Green List (High Evidence).
Publications for gene: CSNK2B were set to 28762608; 28585349; 27094248
Zornitza Stark: Three unrelated patients repor
Gene: csnk2b has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: CSNK2B.
Gene: csnk2b has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CSNK2B were changed from to Myoclonic epilepsy and intellectual disability
Publications for gene: CSNK2B were set to
Mode of inheritance for gene: CSNK2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Expert Review Amber was added to CSNK2B. Panel: Genetic Epilepsy Syndromes
CSNK2B was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
CSNK2B was created by Sarah Leigh