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Early onset or syndromic epilepsy v1.191 | KIF5C | Rebecca Foulger Source Wessex and West Midlands GLH was added to KIF5C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.190 | KIF5C | Rebecca Foulger Source NHS GMS was added to KIF5C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.189 | KIF5C | Rebecca Foulger reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.188 | KIF5C | Tracy Lester reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: ; Publications: 23603762; Phenotypes: Cortical dysplasia, complex, with other brain malformations, 615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.963 | KIF5C | Ivone Leong Classified gene: KIF5C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.963 | KIF5C |
Ivone Leong Added comment: 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. |
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Early onset or syndromic epilepsy v0.963 | KIF5C | Ivone Leong Gene: kif5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.960 | KIF5C | Ivone Leong Publications for gene: KIF5C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.952 | KIF5C | Ivone Leong Mode of inheritance for gene: KIF5C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.951 | KIF5C | Ivone Leong Phenotypes for gene: KIF5C were changed from to Cortical dysplasia, complex, with other brain malformations 2, 615282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | KIF5C | Zornitza Stark reviewed gene: KIF5C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | KIF5C | Sarah Leigh Added gene to panel |