Hereditary spastic paraplegia

Gene: KIF1C

Comment 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

I don't know

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 2019

Created: 3 May 2019, 8:36 a.m.

I don't know

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

• 24482476
• 24319291
• 24482476
• 17273843

I don't know

One patient in Gel cohort found to have compound heterozygous VUS but uncertain significance. To review literature when panel next reviewed

Created: 19 Jan 2017, 11:35 a.m.

Comment when marking as ready: Still only limited evidence

Created: 10 May 2016, 11:29 a.m.