Hereditary spastic paraplegia - adult onset

Gene: KIF1C

Green List (high evidence)

KIF1C (kinesin family member 1C)
EnsemblGeneIds (GRCh38): ENSG00000129250
EnsemblGeneIds (GRCh37): ENSG00000129250
OMIM: 603060, Gene2Phenotype
KIF1C is in 9 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

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

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

Chris Buxton (North Bristol NHS Trust)

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

Louise Daugherty (Genomics England Curator)

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • South West GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic ataxia 2, autosomal recessive, 611302
  • Spastic ataxia 2, autosomal recessive
OMIM
603060
Clinvar variants
Variants in KIF1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KIF1C were set to 24482476; 24319291; 17273843

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to KIF1C.

27 Apr 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: KIF1C was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic ataxia 2, autosomal recessive for gene: KIF1C Publications for gene KIF1C were changed from to 24482476; 24319291; 17273843

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to KIF1C.

25 Apr 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

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)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KIF1C.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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