| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.93 | KIF5A | Bryony Thompson Marked gene: KIF5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.93 | KIF5A | Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.93 | KIF5A | Bryony Thompson Classified gene: KIF5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.93 | KIF5A | Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.92 | KIF5A |
Bryony Thompson gene: KIF5A was added gene: KIF5A was added to Ataxia. Sources: Literature Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 40518753; 31286494; 30778698; 30480035; 29892902 Phenotypes for gene: KIF5A were set to hereditary spastic paraplegia 10, MONDO:0011408 Review for gene: KIF5A was set to GREEN Added comment: Four papers report 12 affected individuals from 4 independent families with heterozygous KIF5A variants (missense and splice) presenting with hereditary spastic paraplegia and cerebellar ataxia; this phenotype includes prominent ataxia and aligns with the Ataxia panel’s scope of disorders where ataxia is a core feature. Sources: Literature |
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