KLC2

kinesin light chain 2
OMIM: 611729, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red KLC2 in Childhood onset hereditary spastic paraplegia


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541
Tags
  • currently-ngs-unreportable
Red KLC2 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy, 609541
  • SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy
Red KLC2 in Hereditary neuropathy or pain disorder


Version 4.8
Latest signed off version: v4.0 (1 May 2024)

review 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