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 |
BSCL2 Seipin       | 11q12-q13.5 | * Spastic paraplegia 17 - SPG17 (12.36, 15.9)* Neuronopathy, distal hereditary motor, autosomal dominant 13 - HMND13 (12.36, 15.9) |