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| Motor Neurone Disease v0.26 | KIF5A | Bryony Thompson Classified gene: KIF5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.26 | KIF5A | Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.25 | KIF5A |
Bryony Thompson gene: KIF5A was added gene: KIF5A was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 29342275; 30301576; 29566793 Phenotypes for gene: KIF5A were set to {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921 Review for gene: KIF5A was set to GREEN Added comment: 12 patients from 9 unrelated families with ALS, had heterozygous LOF variants in the C-terminal region cargo-binding region. Variants causing SPG10 are almost exclusively missense mutations that affect the N-terminal motor domain. Sources: Expert list |
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