Malformations of cortical development

Gene: KIF2A

Green List (high evidence)

KIF2A (kinesin family member 2A)
EnsemblGeneIds (GRCh38): ENSG00000068796
EnsemblGeneIds (GRCh37): ENSG00000068796
OMIM: 602591, Gene2Phenotype
KIF2A is in 5 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Recognised on G2P and offered on UKGTN. Expert review green.
Created: 19 Dec 2016, 10:34 a.m.

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Band heterotopia; pachygyria

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
  • Other
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3
OMIM
602591
Clinvar variants
Variants in KIF2A
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

KIF2A was added to Malformations of cortical developmentpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review

19 Dec 2016, Gel status: 2

Upload gene information

Alice Gardham (Genomics England)

KIF2A was added to Malformations of cortical developmentpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review

22 Nov 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

11 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

KIF2A was added to Malformations of cortical developmentpanel. Sources: Other

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

KIF2A was created by sleigh