Genetic Epilepsy
Gene: KIF2A

KIF2A (kinesin family member 2A)
EnsemblGeneIds (GRCh38): ENSG00000068796
EnsemblGeneIds (GRCh37): ENSG00000068796
OMIM: 602591, Gene2Phenotype
KIF2A is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least five unrelated families reported, with various malformations of cortical development including lissencephaly, agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum; microcephaly, intellectual disability and seizures. Some recurrent missense at p.Ser317 and p.His321. Functional data supports gene-disease association.
Created: 29 Aug 2020, 1:38 a.m. | Last Modified: 29 Aug 2020, 1:38 a.m.

Panel Version: 0.810

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411

Publications

Created: 29 Aug 2020, 1:38 a.m.
Last Modified: 29 Aug 2020, 1:38 a.m.
Panel version: 0.810

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411

OMIM

602591

Clinvar variants

Variants in KIF2A

Penetrance

None

Publications

Panels with this gene