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  3. CSNK2A1
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Fetal anomalies

Gene: CSNK2A1

Green List (high evidence)
CSNK2A1 (casein kinase 2 alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000101266
EnsemblGeneIds (GRCh37): ENSG00000101266
OMIM: 115440, Gene2Phenotype
CSNK2A1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Okur-Chung neurodevelopmental syndrome (OCNDS) is characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients.

Well established gene-disease association, over 30 unrelated individuals reported.
Created: 25 Nov 2021, 9:35 p.m. | Last Modified: 25 Nov 2021, 9:35 p.m.
Panel Version: 0.715

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Okur-Chung neurodevelopmental syndrome, MIM# 617062

Publications

Created: 25 Nov 2021, 9:35 p.m.
Last Modified: 25 Nov 2021, 9:35 p.m.
Panel version: 0.715

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Microcephaly is a feature of the condition in 8/14 cases with de novo variants.
Sources: Expert list
Created: 30 May 2020, 12:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Okur-Chung neurodevelopmental syndrome MIM#617062

Publications

Created: 30 May 2020, 12:54 a.m.

Panel version: Imported from Microcephaly panel version 0.124

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Okur-Chung neurodevelopmental syndrome, MIM# 617062
OMIM
115440
Clinvar variants
Variants in CSNK2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: csnk2a1 has been classified as Green List (High Evidence).

25 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CSNK2A1 were changed from CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062 to Okur-Chung neurodevelopmental syndrome, MIM# 617062

25 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CSNK2A1 were set to

25 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CSNK2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CSNK2A1 was added gene: CSNK2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062