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  3. KIF1A
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Childhood onset dystonia, chorea or related movement disorder

Gene: KIF1A

Amber List (moderate evidence)
KIF1A (kinesin family member 1A)
EnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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.
Created: 5 Aug 2021, 4:27 p.m. | Last Modified: 5 Aug 2021, 4:27 p.m.
Panel Version: 1.139
Created: 5 Aug 2021, 4:27 p.m.
Last Modified: 5 Aug 2021, 4:27 p.m.
Panel version: 1.139

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Dystonia was a feature of the phenotype in 4/10 cases with de novo or parental germline mosaic variants.
Sources: Literature
Created: 21 Jan 2021, 9:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia; spastic paraplegia; intellectual disability

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Jan 2021, 9:24 a.m.

Panel version: 1.72

History Filter Activity

5 Aug 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIF1A were changed from Dystonia; spastic paraplegia; intellectual disability to NESCAV syndrome, OMIM:614255

5 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kif1a has been classified as Amber List (Moderate Evidence).

21 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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