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

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red. Gene was added to panel and rated Red by Chris Buxton (Bristol NHS). As the reviewer notes, there is currently 1 family from 1 paper (PMID:26423925).
Created: 8 Jan 2019, 3:24 p.m.
PMID:26423925 (Bayrakli et al., 2015) report 3 patients from the same family with common features of progressive complicated spastic paraplegia. They shared a homozygous variant (c.853_871del19) in the KLC4 gene. The unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type.
Created: 8 Jan 2019, 3:23 p.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 2:12 p.m.

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

Bayrakli (2015, 26423925). Affected, homozygous fs in three individuals in the same family.
One family, limited evidence
Diagnostic on Sheffield HSP panel
Sources: Literature
Created: 27 Nov 2018, 5:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spastic paraplegia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • spastic paraplegia
  • progressive complicated spastic paraplegia
Clinvar variants
Variants in KLC4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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).

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

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

27 Nov 2018, Gel status: 0

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

Chris Buxton (North Bristol NHS Trust)

gene: KLC4 was added gene: KLC4 was added to Hereditary spastic paraplegia. Sources: Literature 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 Penetrance for gene: KLC4 were set to Complete Review for gene: KLC4 was set to RED