Hereditary spastic paraplegia
Gene: KIF1CComment on list classification: Upgraded from Amber to Green as there are now sufficient unrelated cases (>3) of spasticity associated with variants in this gene (updated references in publications list). KIF1C is also already Green on the GMS-equivalent HSP panels.Created: 19 Aug 2021, 2:56 p.m. | Last Modified: 20 Aug 2021, 1:28 p.m.
Panel Version: 1.247
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 8:36 a.m.
More familailes listed on OMIM (Nov 2018):
In affected members of 2 unrelated families with SPAX2, Dor et al. (2014) identified 2 different homozygous mutations in the KIF1C gene (R731X, 603060.0001 and R169W, 603060.0002). The mutations were found using a combination of homozygosity mapping and whole-exome sequencing. Functional studies were not performed.
In 2 consanguineous families with SPAX2, Novarino et al. (2014) identified homozygous mutations in the KIF1C gene: the R731X mutation previously identified by Dor et al. (2014) and a splice site mutation (603060.0003). Novarino et al. (2014) also identified a homozygous deletion of exons 14-18 of the KIF1C gene (603060.0004) in affected members of the Moroccan family with SPAX2 reported by Bouslam et al. (2007).Created: 26 Nov 2018, 4:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cerebellar ataxia; dysarthria; variable spasticity of the lower limbs; Cognition is not affected
Publications
One patient in Gel cohort found to have compound heterozygous VUS but uncertain significance. To review literature when panel next reviewedCreated: 19 Jan 2017, 11:35 a.m.
Comment when marking as ready: Still only limited evidenceCreated: 10 May 2016, 11:29 a.m.
Gene: kif1c has been classified as Green List (High Evidence).
Tag watchlist was removed from gene: KIF1C.
Publications for gene: KIF1C were set to 24482476; 24319291; 24482476; 17273843
Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive to Spastic ataxia 2, autosomal recessive, OMIM:611302
Gene: kif1c has been classified as Amber List (Moderate Evidence).
Publications for gene: KIF1C were set to Dor et al. (2014)
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene KIF1C was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1C was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1C was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1C was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1C was changed to BIALLELIC, autosomal or pseudoautosomal
KIF1C was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list
KIF1C was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list