| Approved symbol | PPT1 |
|---|---|
| Approved name | palmitoyl-protein thioesterase 1 |
| HGCN ID | HGNC:9325 |
| Previous symbols | PPT |
| Inheritance | |
| OMIM | 600722 |
| Chromosome | 1p34.2 |
| Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Dementie NGS Epilepsie NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Visus pakket Retinale genen |
