Adult onset hereditary spastic paraplegia

Gene: KIF1C

Green List (high evidence)

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

• 24319291
• 24482476
• 24808017
• 29544888
• 31413903

Red List (low evidence)

Childhood onset generally.

Created: 22 Sep 2020, 5:08 a.m. | Last Modified: 22 Sep 2020, 5:08 a.m.

Panel Version: 1.7

I don't know

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

• 24482476
• 24319291
• 24808017

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Will include in local HSP panel. Green in Hereditary Ataxia; 4 reports 2014-18

Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 2, autosomal recessive

Publications

• 24482476
• 24319291
• 24482476
• 17273843

I don't know

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.

Green List (high evidence)

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.

Phenotypes
Spastic ataxia 2, autosomal recessive, 611302