Genes in panel

Neurodegenerative disorders - adult onset

Gene: KLC4

Red List (low evidence)

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

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

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • spastic paraplegia
  • progressive complicated spastic paraplegia
Clinvar variants
Variants in KLC4
Penetrance
None
Publications
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

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia

8 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: klc4 has been classified as Red List (Low Evidence).

20 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: klc4 has been classified as Red List (Low Evidence).

18 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: klc4 has been removed from the panel.

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: KLC4 was added gene: KLC4 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLC4 were set to 26423925 Phenotypes for gene: KLC4 were set to spastic paraplegia