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Hereditary neuropathy NOT PMP22 copy number

Gene: KLC2

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Alexander Rossor (UCL Institute of Neurology)

I don't know

only 2 families
Created: 6 Jun 2019, 10:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy
  • Spastic paraplegia, optic atrophy, and neuropathy, 609541
OMIM
611729
Clinvar variants
Variants in KLC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: KLC2 was added gene: KLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH 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 SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy; Spastic paraplegia, optic atrophy, and neuropathy, 609541