Adult onset hereditary spastic paraplegia
Gene: KIF1C
Review of literature revealed only a single true adult onset family (PMID:24808017). In the remaining cases, initial signs typically arose in childhood and slowly progressed over time. However, there are also reports of onset in late adolescence (i.e. 16-18 yrs; PMIDs: 24808017; 31413903) and therefore inclusion on this panel is warranted to allow identification of edge cases.
This gene is also Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 19 Aug 2021, 2:52 p.m. | Last Modified: 19 Aug 2021, 2:52 p.m.
Panel Version: 1.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 2, autosomal recessive, OMIM:611302
Publications
Childhood onset generally.Created: 22 Sep 2020, 5:08 a.m. | Last Modified: 22 Sep 2020, 5:08 a.m.
Panel Version: 1.7
Childhood onset, At least 6 families. Adult onset not reported.Created: 10 May 2019, 7:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Will include in local HSP panel. Green in Hereditary Ataxia; 4 reports 2014-18Created: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 2, autosomal recessive
Publications
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 panelCreated: 25 Apr 2019, 1:22 p.m.
Phenotypes
Spastic ataxia 2, autosomal recessive, 611302
Publications for gene: KIF1C were set to 24482476; 24319291; 17273843; 24808017
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