Hereditary spastic paraplegia - childhood onset

Gene: KLC2

No list

KLC2 (kinesin light chain 2)
EnsemblGeneIds (GRCh38): ENSG00000174996
EnsemblGeneIds (GRCh37): ENSG00000174996
OMIM: 611729, Gene2Phenotype
KLC2 is in 3 panels

1 review

Zornitza Stark (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 and/or this association may be better defined as a CNV.
Sources: Expert list
Created: 19 Sep 2020, 7:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

19 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KLC2 was added gene: KLC2 was added to Hereditary spastic paraplegia - childhood onset. 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 GREEN gene: KLC2 was marked as current diagnostic