Callosome
Gene: KIF2A
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
Gene: kif2a has been classified as Red List (Low Evidence).
Phenotypes for gene: KIF2A were changed from to Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411
Publications for gene: KIF2A were set to
Mode of inheritance for gene: KIF2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: kif2a has been classified as Red List (Low Evidence).
gene: KIF2A was added gene: KIF2A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIF2A was set to Unknown