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  3. CSNK2A1
STRs in panel
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Malformations of cortical development

Gene: CSNK2A1

Green List (high evidence)
CSNK2A1 (casein kinase 2 alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000101266
EnsemblGeneIds (GRCh37): ENSG00000101266
OMIM: 115440, Gene2Phenotype
CSNK2A1 is in 7 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Three individuals reported by Okur et al., 2016 (PMID: 27048600) displayed cortical abnormalities which meets the threshold for a Green rating. However it should be noted that this is not a common finding and has not been described since the initial report.
Created: 8 Sep 2021, 1:30 p.m. | Last Modified: 8 Sep 2021, 1:30 p.m.
Panel Version: 2.70
Created: 8 Sep 2021, 1:30 p.m.
Last Modified: 8 Sep 2021, 1:30 p.m.
Panel version: 2.70

Zornitza Stark (Australian Genomics)

I don't know

Only two of the reported individuals have cortical malformations, one with pachygyria and another with simplified gyral pattern.
Created: 27 Aug 2020, 10:24 a.m. | Last Modified: 27 Aug 2020, 10:24 a.m.
Panel Version: 2.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Okur-Chung neurodevelopmental syndrome (MIM#617062)

Publications

Created: 27 Aug 2020, 10:24 a.m.
Last Modified: 27 Aug 2020, 10:24 a.m.
Panel version: 2.11

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
617062

Publications

Created: 27 Feb 2017, 9:42 a.m.

Panel version: 1.112

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Okur-Chung neurodevelopmental syndrome, OMIM:617062
OMIM
115440
Clinvar variants
Variants in CSNK2A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

8 Sep 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CSNK2A1 were set to 27048600

8 Sep 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 0

Created

Richard Scott (Genomics England Curator)

CSNK2A1 was created by richardhywel

27 Feb 2017, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

CSNK2A1 was added to Malformations of cortical developmentpanel. Sources: Literature