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  2. Hereditary Spastic Paraplegia - paediatric
  3. KLC4
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Hereditary Spastic Paraplegia - paediatric

Gene: KLC4

Red List (low evidence)
KLC4 (kinesin light chain 4)
EnsemblGeneIds (GRCh38): ENSG00000137171
EnsemblGeneIds (GRCh37): ENSG00000137171
KLC4 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single family reported segregating a homozygous variant.
Created: 19 Apr 2020, 11:02 a.m. | Last Modified: 19 Apr 2020, 11:02 a.m.
Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complicated hereditary spastic paraplegia

Publications

Created: 19 Apr 2020, 11:02 a.m.
Last Modified: 19 Apr 2020, 11:02 a.m.
Panel version: 0.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • spastic paraplegia
  • progressive complicated spastic paraplegia
Clinvar variants
Variants in KLC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KLC4 was added gene: KLC4 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLC4 were set to 26423925 Phenotypes for gene: KLC4 were set to spastic paraplegia; progressive complicated spastic paraplegia