Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
HSPG2 Perlecan       | 1p36.1-p34 | * Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)* Schwartz-Jampel syndrome, type 1 - SJS1 (6.8) |
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 |
HSPG2 Perlecan | 1p36.1-p34 | * Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)* Schwartz-Jampel syndrome, type 1 - SJS1 (6.8) |