This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2025 (updated 12/03/2025)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
KIF1A Kinesin family member 1A       | 2q37.3 | * Spastic paraplegia 30 - SPG30 (14.118, 15.12, 15.39)* Neuropathy, hereditary sensory, type IIC - HSN2C (14.118, 15.12, 15.39) |