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  3. CSNK2B
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Intellectual disability

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

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Intellectual disability with or without myoclonic epilepsy
Created: 21 Jan 2022, 5:21 p.m. | Last Modified: 21 Jan 2022, 5:21 p.m.
Panel Version: 3.1495
Created: 21 Jan 2022, 5:21 p.m.
Last Modified: 21 Jan 2022, 5:21 p.m.
Panel version: 3.1495

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: As summarised by Zornitza, three unrelated patients reported in the literature (one in PMID:28762608 and two in PMID:28585349) with intellectual disability and de novo variants in CSNK2B (splice variant and a frameshift truncating variant). Two of the patients also had monoclonic epilepsy.
Created: 20 Nov 2018, 10:52 a.m.
Created: 20 Nov 2018, 10:52 a.m.

Panel version: 2.903

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three families reported in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 10:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jun 2018, 10:42 a.m.

Panel version: 2.109

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732
  • Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889
OMIM
115441
Clinvar variants
Variants in CSNK2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CSNK2B were changed from Intellectual disability with or without myoclonic epilepsy to Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732; Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889

21 Jan 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CSNK2B were set to 28585349; 28762608; 30655572

27 Jun 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CSNK2B were set to 28585349; 28762608

20 Nov 2018, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CSNK2B were changed from to Intellectual disability with or without myoclonic epilepsy

20 Nov 2018, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CSNK2B were set to 28585349, 28762608

20 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

20 Nov 2018, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CSNK2B.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

CSNK2B was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

CSNK2B was created by Zornitza Stark