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 2024 (updated 17/01/2024)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SPTLC1 Serine palmitoyltransferase subunit 1       | 9q22.2 | * Amyotrophic lateral sclerosis - (12.86, 14.106)* Neuropathy, hereditary sensory, type 1 - HSN1 (12.86, 14.106)* Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (12.86, 14.106) |