Microcephaly
Gene: KIF2A
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. Microcephaly is in the range of -2SD -4.5SD, described as progressive in at least one individual. Some normocephalic but lower end of normal range. Some recurrent missense at p.Ser317 and p.His321. Functional data supports gene-disease association.
Sources: Expert ReviewCreated: 29 Aug 2020, 1:45 a.m.
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 Green List (High Evidence).
Gene: kif2a has been classified as Green List (High Evidence).
gene: KIF2A was added gene: KIF2A was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF2A were set to 23603762; 27896282; 27747449; 29077851; 31919497 Phenotypes for gene: KIF2A were set to Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Review for gene: KIF2A was set to GREEN