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Callosome

Gene: KIF2A

Red List (low evidence)

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

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

History Filter Activity

29 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif2a has been classified as Red List (Low Evidence).

29 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF2A were changed from to Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411

29 Aug 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF2A were set to

29 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif2a has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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