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Hereditary Neuropathy - complex

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)

Sufficient cases for Green rating, noting limitation in detecting upstream deletion by WES.
Created: 22 Apr 2020, 8:26 a.m. | Last Modified: 22 Apr 2020, 8:26 a.m.
Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 22 Apr 2020, 8:26 a.m.
Last Modified: 22 Apr 2020, 8:26 a.m.
Panel version: 0.57

Bryony Thompson (Royal Melbourne Hospital)

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. The deletion is not detected by whole-exome sequencing. Later onset of sensorimotor peripheral neuropathy is a feature of the condition.
Sources: Literature
Created: 31 Jan 2020, 10:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 31 Jan 2020, 10:19 p.m.

Panel version: 0.64

Details

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

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).

31 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KLC2 was added gene: KLC2 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature SV/CNV tags were added to gene: KLC2. Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLC2 were set to 26385635 Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Review for gene: KLC2 was set to RED