Hereditary spastic paraplegia - adult onsetGene: KIF1C
Childhood onset generally.
Created: 22 Sep 2020, 5:08 a.m. | Last Modified: 22 Sep 2020, 5:08 a.m.
Panel Version: 1.7
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.
in liturature: affected members of 2 unrelated families-cerebellar ataxia and variable spasticity of the lower limbs. In sheffield HSP panel
Created: 25 Apr 2019, 1:22 p.m.
Spastic ataxia 2, autosomal recessive, 611302
Publications for gene: KIF1C were set to 24482476; 24319291; 17273843
Source Yorkshire and North East GLH was added to KIF1C.
Mode of inheritance for gene: KIF1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 2, autosomal recessive for gene: KIF1C Publications for gene KIF1C were changed from to 24482476; 24319291; 17273843
Source South West GLH was added to KIF1C.
Source Expert Review Green was added to KIF1C. Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to KIF1C.
gene: KIF1C was added gene: KIF1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIF1C was set to