Lissencephaly and Band Heterotopia
Gene: CSNK2A1EnsemblGeneIds (GRCh38): ENSG00000101266
EnsemblGeneIds (GRCh37): ENSG00000101266
OMIM: 115440, Gene2Phenotype
CSNK2A1 is in 6 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 27048600;
- 5 unrelated patients
- 1x pachygyria + 1x simplified gyral cortication
PMID: 29240241;
- summary of reports thus far, no additional patients with cortical malformations
* all variants reported are de novo
Sources: LiteratureCreated: 25 Aug 2020, 11:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Okur-Chung neurodevelopmental syndrome (MIM#617062)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Okur-Chung neurodevelopmental syndrome (MIM#617062)
- OMIM
- 115440
- Clinvar variants
- Variants in CSNK2A1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: CSNK2A1 was added gene: CSNK2A1 was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSNK2A1 were set to 27048600; 29240241 Phenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome (MIM#617062) Penetrance for gene: CSNK2A1 were set to unknown Review for gene: CSNK2A1 was set to AMBER