KLC2

kinesin light chain 2
OMIM: 611729, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KLC2 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Tags
  • SV/CNV

Green KLC2 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Tags
  • SV/CNV

Green KLC2 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541
Tags
  • SV/CNV

Green KLC2 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Tags
  • SV/CNV