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 |
PLEKHG5 Pleckstrin homology domain containing, family G (with RhoGef domain) member 5       | 1p36 | * spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.16, 14.25)* Axonal neuropathy intermediate recessive C - CMTRIC (12.16, 14.25) |