Dystonia - complex
Gene: KIF1C
KIF1C (kinesin family member 1C)
EnsemblGeneIds (GRCh38): ENSG00000129250
EnsemblGeneIds (GRCh37): ENSG00000129250
OMIM: 603060, Gene2Phenotype
KIF1C is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000129250
EnsemblGeneIds (GRCh37): ENSG00000129250
OMIM: 603060, Gene2Phenotype
KIF1C is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. At least one report of a more complex movement disorder including dystonia.
Sources: Expert listCreated: 6 Sep 2020, 8:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 2, autosomal recessive, MIM# 611302
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Spastic ataxia 2, autosomal recessive, MIM# 611302
- OMIM
- 603060
- Clinvar variants
- Variants in KIF1C
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
6 Sep 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif1c has been classified as Amber List (Moderate Evidence).
6 Sep 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif1c has been classified as Amber List (Moderate Evidence).
6 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KIF1C was added gene: KIF1C was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1C were set to 31413903 Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, MIM# 611302 Review for gene: KIF1C was set to AMBER