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Early onset or syndromic epilepsy v2.402 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from Mental retardation, autosomal dominant 9 614255 to NESCAV syndrome, OMIM:614255
Early onset or syndromic epilepsy v1.191 KIF1A Rebecca Foulger Source Wessex and West Midlands GLH was added to KIF1A.
Early onset or syndromic epilepsy v1.190 KIF1A Rebecca Foulger Source NHS GMS was added to KIF1A.
Early onset or syndromic epilepsy v1.189 KIF1A Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25265257; Phenotypes: Mental retardation, 614255, Neuropathy, hereditary sensory, type IIC 614213, Spastic paraplegia 30 610357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Marked gene: KIF1A as ready
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Gene: kif1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Classified gene: KIF1A as Green List (high evidence)
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to expert review and enough evidence for inclusion of this gene on this panel. More than 3 unrelated cases reported.
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Gene: kif1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1575 KIF1A Ellen McDonagh Added comment: Comment on publications: PMID: 25265257 - five cases of 14 reported with de novo KIF1A variants were epileptic or had epileptic abnormalities (infantile spasms, partial complex and myoclinic seizures).
Early onset or syndromic epilepsy v0.1575 KIF1A Ellen McDonagh Publications for gene: KIF1A were set to
Early onset or syndromic epilepsy v0.1573 KIF1A Ellen McDonagh Phenotypes for gene: KIF1A were changed from to Mental retardation, autosomal dominant 9 614255
Early onset or syndromic epilepsy v0.1570 KIF1A Ellen McDonagh Mode of inheritance for gene: KIF1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy KIF1A Zornitza Stark reviewed gene: KIF1A
Early onset or syndromic epilepsy KIF1A Sarah Leigh Added gene to panel