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 |
SLC12A6 Potassium chloride cotransporter KCC3       | 15q13-q15 | * Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.129)* Charlevoix disease - SLC12A6 (14.129)* Andermann syndrome - SLC12A6 (14.129) |