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Genetic epilepsy syndromes

Gene: CSNK2B

Green List (high evidence)

CSNK2B (casein kinase 2 beta)
EnsemblGeneIds (GRCh38): ENSG00000204435
EnsemblGeneIds (GRCh37): ENSG00000204435
OMIM: 115441, Gene2Phenotype
CSNK2B is in 3 panels

4 reviews

Louise Daugherty (Genomics England Curator)

As a result of watchlist tag audit the watchlist tag was removed from CSNK2B- this is now a green gene with sufficient evidence/review
Created: 13 Jan 2020, 1:32 p.m. | Last Modified: 13 Jan 2020, 1:32 p.m.
Panel Version: 2.0

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Rebecca Foulger (Genomics England curator)

I don't know

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.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myoclonic epilepsy and intellectual disability
OMIM
115441
Clinvar variants
Variants in CSNK2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: CSNK2B.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CSNK2B.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CSNK2B.

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: csnk2b has been classified as Green List (High Evidence).

27 Jun 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CSNK2B were set to 28762608; 28585349; 27094248

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Three unrelated patients repor

19 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: csnk2b has been classified as Amber List (Moderate Evidence).

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: CSNK2B.

19 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: csnk2b has been classified as Amber List (Moderate Evidence).

19 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CSNK2B were changed from to Myoclonic epilepsy and intellectual disability

19 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CSNK2B were set to

19 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CSNK2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to CSNK2B. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CSNK2B was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CSNK2B was created by Sarah Leigh