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  3. CSNK2A1
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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 6 panels

1 review

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: 0.124

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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

30 May 2020, 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).

30 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CSNK2A1 was added gene: CSNK2A1 was added to 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