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  2. Adult onset hereditary spastic paraplegia
  3. KLC4
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Adult onset hereditary spastic paraplegia

Gene: KLC4

Red List (low evidence)
KLC4 (kinesin light chain 4)
EnsemblGeneIds (GRCh38): ENSG00000137171
EnsemblGeneIds (GRCh37): ENSG00000137171
KLC4 is in 4 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Single family, childhood onset. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 12:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Created: 10 May 2019, 12:46 p.m.

Panel version: 0.53

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 27 Apr 2019, 4:30 p.m.

Panel version: 0.42

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

see current PA review status
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spastic paraplegia; progressive complicated spastic paraplegia

Publications

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

Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • South West GLH
Phenotypes
  • spastic paraplegia
  • progressive complicated spastic paraplegia
Clinvar variants
Variants in KLC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: KLC4 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KLC4.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to KLC4.

27 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4 Publications for gene KLC4 were changed from to 26423925

27 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: KLC4 was added gene: KLC4 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: KLC4 was set to