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| Dystonia - complex v0.166 | KIF1A | Bryony Thompson Classified gene: KIF1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.166 | KIF1A | Bryony Thompson Gene: kif1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.165 | KIF1A |
Bryony Thompson gene: KIF1A was added gene: KIF1A was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF1A were set to 32096284; 32935419 Phenotypes for gene: KIF1A were set to Dystonia; spastic paraplegia; intellectual disability Review for gene: KIF1A was set to GREEN gene: KIF1A was marked as current diagnostic Added comment: Dystonia was a feature of the phenotype in 4/10 cases with de novo or parental germline mosaic variants. Sources: Literature |
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