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Early onset or syndromic epilepsy v1.191 | KIF2A | Rebecca Foulger Source Wessex and West Midlands GLH was added to KIF2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.190 | KIF2A | Rebecca Foulger Source NHS GMS was added to KIF2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.189 | KIF2A | Rebecca Foulger edited their review of gene: KIF2A: Added comment: 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. ; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.188 | KIF2A | Tracy Lester reviewed gene: KIF2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23603762, 29313800; Phenotypes: Cortical dysplasia, complex, with other brain malformations, 615411; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1574 | KIF2A | Rebecca Foulger Marked gene: KIF2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1574 | KIF2A | Rebecca Foulger Gene: kif2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1574 | KIF2A | Rebecca Foulger Classified gene: KIF2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1574 | KIF2A |
Rebecca Foulger Added comment: 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. |
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Early onset or syndromic epilepsy v0.1574 | KIF2A | Rebecca Foulger Gene: kif2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1572 | KIF2A | Rebecca Foulger commented on gene: KIF2A: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1572 | KIF2A | Rebecca Foulger commented on gene: KIF2A: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1572 | KIF2A | Rebecca Foulger commented on gene: KIF2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1560 | KIF2A | Rebecca Foulger Mode of inheritance for gene: KIF2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1559 | KIF2A | Rebecca Foulger Publications for gene: KIF2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.1558 | KIF2A | Rebecca Foulger Phenotypes for gene: KIF2A were changed from to Cortical dysplasia, complex, with other brain malformations 3, 615411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | KIF2A | Zornitza Stark reviewed gene: KIF2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | KIF2A | Sarah Leigh Added gene to panel |