Malformations of cortical development
Gene: KIF5C
KIF5C (kinesin family member 5C)
EnsemblGeneIds (GRCh38): ENSG00000168280
EnsemblGeneIds (GRCh37): ENSG00000168280
OMIM: 604593, Gene2Phenotype
KIF5C is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000168280
EnsemblGeneIds (GRCh37): ENSG00000168280
OMIM: 604593, Gene2Phenotype
KIF5C is in 6 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Recognised on G2P. Mutations identified in at least two families. Expert review greenCreated: 19 Dec 2016, 10:37 a.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Severe MCD
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Expert Review
- Other
- Phenotypes
-
- Cortical dysplasia, complex, with other brain malformations 2
- OMIM
- 604593
- Clinvar variants
- Variants in KIF5C
- 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: 1
Upload gene information
Alice Gardham (Genomics England)KIF5C was added to Malformations of cortical developmentpanel. Sources: 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)KIF5C was added to Malformations of cortical developmentpanel. Sources: Other
11 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)KIF5C was created by sleigh