Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
PIP5K1C Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma      | 19p13.3 | * Lethal congenital contractural syndrome 3 - LCCS3 (12.89) |
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 |
PIP5K1C Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma | 19p13.3 | * Lethal congenital contractural syndrome 3 - LCCS3 (12.89) |