Genetic epilepsy syndromesGene: KIF5C
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cortical dysplasia, complex, with other brain malformations, 615282
Comment on list classification: Promoted from amber to green. Phenotype is confirmed in both OMIM and Gene2Phenotype.
There are 3 studies (PMID: 23603762, 23033978, 29048727) that have reported, in total, 3 unrelated families (5 patients) who have various missense variants in this gene who have Cortical dysplasia and also seizures.
Created: 20 Nov 2018, 12:05 p.m.
Seizures are part of the phenotype in this brain malformation disorder.
Created: 16 Aug 2018, 2:11 a.m.
Cortical dysplasia, complex, with other brain malformations 2; MIM#615282
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to KIF5C.
Source NHS GMS was added to KIF5C.
Zornitza Stark: Seizures are part of the pheno
Gene: kif5c has been classified as Green List (High Evidence).
Publications for gene: KIF5C were set to
Mode of inheritance for gene: KIF5C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF5C were changed from to Cortical dysplasia, complex, with other brain malformations 2, 615282
Expert Review Amber was added to KIF5C. Panel: Genetic Epilepsy Syndromes
KIF5C was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
KIF5C was created by Sarah Leigh