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  2. Hereditary Spastic Paraplegia - paediatric
  3. KLC2
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Hereditary Spastic Paraplegia - paediatric

Gene: KLC2

Green List (high evidence)
KLC2 (kinesin light chain 2)
EnsemblGeneIds (GRCh38): ENSG00000174996
EnsemblGeneIds (GRCh37): ENSG00000174996
OMIM: 611729, Gene2Phenotype
KLC2 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Gene is associated with disease, however deletion may not be tractable by all testing methods.
Created: 22 Apr 2020, 8:25 a.m. | Last Modified: 22 Apr 2020, 8:25 a.m.
Panel Version: 0.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 22 Apr 2020, 8:25 a.m.
Last Modified: 22 Apr 2020, 8:25 a.m.
Panel version: 0.81

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A large deletion in the non-coding region segregates with disease and has been identified in >3 cases with SPOAN. This CNV is not detected by whole exome sequencing.
Sources: Expert list
Created: 31 Dec 2019, 5:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541

Created: 31 Dec 2019, 5:50 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541
Tags
SV/CNV
OMIM
611729
Clinvar variants
Variants in KLC2
Penetrance
None
Panels with this gene

History Filter Activity

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klc2 has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klc2 has been classified as Red List (Low Evidence).

13 Jan 2020, Gel status: 1

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag SV/CNV tag was added to gene: KLC2.

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KLC2 was added gene: KLC2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 Review for gene: KLC2 was set to RED