04 Aug 2021
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
06 Aug 2019
Early onset or syndromic epilepsy v1.191
KIF1A
Rebecca Foulger Source Wessex and West Midlands GLH was added to KIF1A.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
KIF1A
Rebecca Foulger Source NHS GMS was added to KIF1A.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
KIF1A
Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
11 Dec 2018
Early onset or syndromic epilepsy v0.1576
KIF1A
Ellen McDonagh Marked gene: KIF1A as ready
11 Dec 2018
Early onset or syndromic epilepsy v0.1576
KIF1A
Ellen McDonagh Gene: kif1a has been classified as Green List (High Evidence).
11 Dec 2018
Early onset or syndromic epilepsy v0.1576
KIF1A
Ellen McDonagh Classified gene: KIF1A as Green List (high evidence)
11 Dec 2018
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.
11 Dec 2018
Early onset or syndromic epilepsy v0.1576
KIF1A
Ellen McDonagh Gene: kif1a has been classified as Green List (High Evidence).
11 Dec 2018
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).
11 Dec 2018
Early onset or syndromic epilepsy v0.1575
KIF1A
Ellen McDonagh Publications for gene: KIF1A were set to
11 Dec 2018
Early onset or syndromic epilepsy v0.1573
KIF1A
Ellen McDonagh Phenotypes for gene: KIF1A were changed from to Mental retardation, autosomal dominant 9 614255
11 Dec 2018
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
16 Aug 2018
Early onset or syndromic epilepsy
KIF1A
Zornitza Stark reviewed gene: KIF1A
25 Jun 2018
Early onset or syndromic epilepsy
KIF1A
Sarah Leigh Added gene to panel