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Severe microcephaly

Gene: CSNK2A1

No list

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

1 review

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

Details

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

History Filter Activity

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