Early onset or syndromic epilepsy
Gene: KIF2A
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
Comment on list classification: Updated rating from Amber to Green: 5 unrelated patients with seizures amongst their phenotypes and heterozygous variants in KIF2A from PMIDs:
27896282, 27747449 and 23603762.Created: 11 Dec 2018, 2:40 p.m.
PMID:23603762 (Poirier et al., 2013) report neontal onset seizures in two patients with heterozygous KIF2A variants: patient P462 with a heterozygous variant c.961C>G, p.H321D in KIF2A, and patient p147 with a heterozygous c.950G>A (p.S317N) variant in KIF2A (supplementary Table 4).Created: 11 Dec 2018, 2:37 p.m.
PMID:27747449 (Cavallin et al 2017) detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. Case 2 had tonic-clonic seizures and the c.962A>C (p.His321Pro) variant in KIF2A.Created: 11 Dec 2018, 2:37 p.m.
27896282 (Tian et al 2016) report a patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous variant in KIF2A (p.Thr320Ile).Created: 11 Dec 2018, 2:37 p.m.
Seizures are part of the phenotype of this brain malformation disorder.Created: 16 Aug 2018, 2:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 3, MIM#615411
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to KIF2A.
Source NHS GMS was added to KIF2A.
Zornitza Stark: Seizures are part of the pheno
Gene: kif2a has been classified as Green List (High Evidence).
Gene: kif2a has been classified as Green List (High Evidence).
Mode of inheritance for gene: KIF2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF2A were set to
Phenotypes for gene: KIF2A were changed from to Cortical dysplasia, complex, with other brain malformations 3, 615411
Expert Review Amber was added to KIF2A. Panel: Genetic Epilepsy Syndromes
KIF2A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
KIF2A was created by Sarah Leigh