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| Childhood onset dystonia, chorea or related movement disorder v1.140 | KIF1A | Arina Puzriakova Phenotypes for gene: KIF1A were changed from Dystonia; spastic paraplegia; intellectual disability to NESCAV syndrome, OMIM:614255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.139 | KIF1A | Arina Puzriakova Classified gene: KIF1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.139 | KIF1A | Arina Puzriakova Added comment: Comment on list classification: Dystonia can be feature of NESCAV syndrome (MIM# 614255) caused by heterozygous variants in this gene. However, KIF1A is associated with multiple phenotypes that do not include dystonia, and even NESCAV syndrome is more likely to be investigated in the context of other more prominent features such as spasticity and intellectual disability, for which this gene is already Green. For this reason, classifying as Amber on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.139 | KIF1A | Arina Puzriakova Gene: kif1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.72 | KIF1A |
Zornitza Stark gene: KIF1A was added gene: KIF1A was added to Childhood onset dystonia or chorea or related movement disorder. 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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