Genes in panel
Regions in panel
Prev Next

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 2 panels

2 reviews

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability with or without myoclonic epilepsy
OMIM
115441
Clinvar variants
Variants in CSNK2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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