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Intellectual disability syndromic and non-syndromic

Gene: KIF2A

Green List (high 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)

Green List (high evidence)

Five unrelated individuals reported.
Sources: Expert list
Created: 8 Feb 2020, 9:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3, 615411
OMIM
602591
Clinvar variants
Variants in KIF2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif2a has been classified as Green List (High Evidence).

8 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif2a has been classified as Green List (High Evidence).

8 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif2a has been classified as Green List (High Evidence).

8 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF2A was added gene: KIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF2A were set to 23603762; 21594994; 27747449; 27896282 Phenotypes for gene: KIF2A were set to Cortical dysplasia, complex, with other brain malformations 3, 615411 Review for gene: KIF2A was set to GREEN gene: KIF2A was marked as current diagnostic