Research panel - Severe Paediatric Disorders
Gene: CSNK2B

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

2 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: 1.115

Comment on phenotypes: Intellectual disability with or without myoclonic epilepsy.
Created: 21 Jan 2022, 5:12 p.m. | Last Modified: 21 Jan 2022, 5:12 p.m.

Panel Version: 1.113

Created: 21 Jan 2022, 5:12 p.m.
Last Modified: 21 Jan 2022, 5:12 p.m.
Panel version: 1.113

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CSNK2B; Recommended initial gene rating: Green List (high evidence); Phenotypes: Intellectual disability with or without myoclonic epilepsy.; Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

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.Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732; Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889 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 30847515

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 Intellectual disability with or without myoclonic epilepsy.Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732; Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889

21 Feb 2020, Gel status: 3