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 |
SAMD9L Sterile Alpha Motif Domain-Containing Protein 9-Like      | 7q21.2 | * Ataxia-pancytopenia syndrome - ATXPC (13.46, 13.56)* Spinocerebellar ataxia 49 - SCA49 (13.46, 13.56) |