Callosome
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)

Red List (low evidence)

At least five unrelated families reported, with various malformations of cortical development including lissencephaly, agyria, posterior or frontal pachygyria, subcortical band heterotopia; microcephaly, intellectual disability and seizures. Thin corpus callosum reported in one family only, this is primarily a disorder of cortical development.
Created: 29 Aug 2020, 1:47 a.m. | Last Modified: 29 Aug 2020, 1:47 a.m.

Panel Version: 0.194

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, 1:47 a.m.
Last Modified: 29 Aug 2020, 1:47 a.m.
Panel version: 0.194

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

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