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 |
SPTBN2 Spectrin, Beta, Nonerythrocytic, 2       | 11q13.2 | * Spinocerebellar ataxia 5 - SCA5 (13.5, 13.74)* Spinocerebellar ataxia, autosomal recessive 14 - SCAR14 (13.5, 13.74) |