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 |
REEP2 Receptor expression-enhancing proten 2       | 5q31.2 | * Spastic paraplegia 72, autosomal recessive - SPG72 (15.20, 15.63)* Spastic paraplegia 72, autosomal dominant - SPG72 (15.20, 15.63) |