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Genetic Epilepsy

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 probands (2 confirmed de novo) with missense variants affecting Asp32 (p.Asp32His, p.Asp32Asn), which have an intellectual disability-craniodigital syndrome (IDCS) distinct from Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). Functional assays demonstrated the variants upregulated protein expression and lead to WNT signalling dysregulation. The mechanism of disease appears to be dominant-negative for IDCS, whereas the mechanism for POBINDS is loss-of-function.
Created: 7 Jun 2022, 10:50 p.m. | Last Modified: 7 Jun 2022, 10:50 p.m.
Panel Version: 1.63

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniodigital syndrome-intellectual disability syndrome MONDO:0015463

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Created: 24 Jan 2022, 9:25 a.m. | Last Modified: 24 Jan 2022, 9:25 a.m.
Panel Version: 0.1427

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732

Publications

Emma Goss (Other)

Green List (high evidence)

CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.
Created: 21 Dec 2021, 5:50 a.m. | Last Modified: 21 Dec 2021, 5:50 a.m.
Panel Version: 0.1413

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
genetic epilepsy; developmental delay; intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732
OMIM
115441
Clinvar variants
Variants in CSNK2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CSNK2B were changed from to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732

24 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CSNK2B were set to

24 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CSNK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CSNK2B was added gene: CSNK2B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CSNK2B was set to Unknown