| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.91 | KIF1A | Bryony Thompson Marked gene: KIF1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.91 | KIF1A | Bryony Thompson Gene: kif1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.91 | KIF1A | Bryony Thompson Classified gene: KIF1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.91 | KIF1A | Bryony Thompson Gene: kif1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.90 | KIF1A |
Bryony Thompson gene: KIF1A was added gene: KIF1A was added to Ataxia. Sources: Literature Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF1A were set to 38785164; 38681507; 36305856; 36233161; 35326432; 30778698; 27146152 Phenotypes for gene: KIF1A were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: KIF1A was set to GREEN Added comment: KIF1A is associated with a dominant neurodevelopmental disorder characterised by early‑onset progressive ataxia, cerebellar atrophy, spasticity, hypotonia, seizures, optic nerve atrophy and cognitive impairment. Across 191 reported families (190 independent qualifying families) de novo heterozygous missense variants have been documented with ataxia. A single recessive case with biallelic KIF1A variants and a similar phenotype has also been described but does not meet the family‑count threshold for Green classification. The dominant KIF1A‑associated ataxia phenotype aligns with the Ataxia panel’s scope of disorders where ataxia is a prominent feature. Sources: Literature |
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