| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v2.14 | KIF1A | Bryony Thompson Marked gene: KIF1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.14 | KIF1A | Bryony Thompson Gene: kif1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.14 | KIF1A | Bryony Thompson Classified gene: KIF1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.14 | KIF1A | Bryony Thompson Gene: kif1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.13 | KIF1A |
Bryony Thompson gene: KIF1A was added gene: KIF1A was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF1A were set to 39200158; 39125740; 39076207; 36284339 Phenotypes for gene: KIF1A were set to amyotrophic lateral sclerosis, MONDO:0004976 Review for gene: KIF1A was set to AMBER Added comment: PMID 36284339 reports KIF1A as an ALS risk factor; variant‑specific functional assays in HEK293T cells and mouse cortical neurons demonstrated increased cargo binding, which was suggested to be a possible gain of function. PMID 39200158 reports two heterozygous missense variants from the previous study (p.R1457Q, p.P1688L); iPSC‑derived motor neurons from each proband display KIF1A aggregation, cargo accumulation and autophagy impairment, partially rescued by rapamycin. PMID 39076207 describes 14 variants identified in an ALS cohort, but only the recurrent p.A1083T variant shows segregation, and this variant exceeds the autosomal‑dominant allele‑frequency threshold, leaving no qualifying families. PMID 39125740 adds a single de novo heterozygous missense variant (p.Ile192Val) in an ALS patient. Sources: Literature |
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