Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: KIF4A

Red List (low evidence)

KIF4A (kinesin family member 4A)
EnsemblGeneIds (GRCh38): ENSG00000090889
EnsemblGeneIds (GRCh37): ENSG00000090889
OMIM: 300521, Gene2Phenotype
KIF4A is in 2 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Four males in one family with the same variant reported. Phenotypes include mild to moderate intellectual disability and epilepsy (PMID: 24812067). Cannot rule out founder effect and falls short of 3+ unrelated individuals with variant in the gene.
Created: 13 Dec 2017, 10:16 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
INTELLECTUAL DISABILITY

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • INTELLECTUAL DISABILITY
OMIM
300521
Clinvar variants
Variants in KIF4A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KIF4A.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KIF4A was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KIF4A was added to Intellectual disabilitypanel. Sources: Expert Review Red