Adult onset neurodegenerative disorder
Gene: KLC4

KLC4 (kinesin light chain 4)
EnsemblGeneIds (GRCh38): ENSG00000137171
EnsemblGeneIds (GRCh37): ENSG00000137171
KLC4 is in 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Created: 23 Jul 2019, 3:51 p.m.
Last Modified: 23 Jul 2019, 3:51 p.m.
Panel version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Single family with childhood onset spastic paraplegia. No additional patients identified using Sheffield panel.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.

Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spastic paraplegia; progressive complicated spastic paraplegia

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Created: 8 Jan 2019, 3:25 p.m.

Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Created: 20 Dec 2018, 3:11 p.m.

Gene awaiting curator evaluation on the Hereditary spastic paraplegia v1.128 panel. Gene was added to the HSP panel and rated Red by Chris Buxton.
Created: 20 Dec 2018, 10:31 a.m.

Created: 20 Dec 2018, 10:31 a.m.

Panel version: 0.27

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Yorkshire and North East GLH
Expert Review Red
Expert list

Phenotypes

spastic paraplegia
progressive complicated spastic paraplegia

Clinvar variants

Variants in KLC4

Penetrance

None

Publications

26423925

Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KLC4.

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to KLC4.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

8 Jan 2019, Gel status: 1