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Prepair 1000+

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

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

KIFIC, HGNC:6317. Autosomal recessive spastic ataxia-2 (SPAX2) is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected, but developmental delay has been seen.
Onset in childhood or adolescence, more than 5 unrelated families reported.
Created: 5 Feb 2025, 6:07 a.m. | Last Modified: 5 Feb 2025, 6:07 a.m.
Panel Version: 1.1456

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 Green
  • Mackenzie's Mission
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

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive, 611302 (3) to Spastic ataxia 2, autosomal recessive, MIM#611302

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF1C were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF1C was added gene: KIF1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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, 611302 (3)