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  3. CSNK2A1
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Severe microcephaly

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

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Created: 10 Mar 2022, 1:37 p.m.
Last Modified: 10 Mar 2022, 1:37 p.m.
Panel version: 2.292

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 5 May 2021, 3:19 p.m. | Last Modified: 5 May 2021, 3:19 p.m.
Panel Version: 2.133
Created: 5 May 2021, 3:19 p.m.
Last Modified: 5 May 2021, 3:19 p.m.
Panel version: 2.133

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Microcephaly is a feature of the condition in 8/14 cases with de novo variants.
Sources: Expert list
Created: 4 Sep 2020, 10:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Okur-Chung neurodevelopmental syndrome MIM#617062

Publications

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

Created: 4 Sep 2020, 10:16 a.m.

Panel version: 2.20

Details

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

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: CSNK2A1.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to CSNK2A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).

5 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CSNK2A1.

5 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CSNK2A1 was added gene: CSNK2A1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSNK2A1 were set to 29240241 Phenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome MIM#617062 Review for gene: CSNK2A1 was set to GREEN gene: CSNK2A1 was marked as current diagnostic