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 |
PIEZO2 Piezo-type mechanosensitive ion channel component 2       | 18p11.22-p11.21 | * Arthrogryposis, distal, type 5 - DA5 (16.16, 16.17)* Arthrogryposis, distal, type 3 - DA3 (16.16, 16.17) |