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  3. KIF1C
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Ataxia - paediatric

Gene: KIF1C

Green List (high evidence)
KIF1C (kinesin family member 1C)
EnsemblGeneIds (GRCh38): ENSG00000129250
EnsemblGeneIds (GRCh37): ENSG00000129250
OMIM: 603060, Gene2Phenotype
KIF1C is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. At least 5 unrelated families reported.
Created: 6 Sep 2020, 8:33 a.m. | Last Modified: 6 Sep 2020, 8:33 a.m.
Panel Version: 0.222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 2, autosomal recessive, MIM# 611302

Publications

Created: 6 Sep 2020, 8:33 a.m.
Last Modified: 6 Sep 2020, 8:33 a.m.
Panel version: 0.222

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset usually in adolescence.
Sources: Expert list
Created: 16 Apr 2020, 11:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 2, autosomal recessive MIM#611302

Created: 16 Apr 2020, 11:42 p.m.

Panel version: 0.125

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF1C were set to

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kif1c has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kif1c has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KIF1C was added gene: KIF1C was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive MIM#611302 Review for gene: KIF1C was set to GREEN