| Approved symbol | HGSNAT |
|---|---|
| Approved name | heparan-alpha-glucosaminide N-acetyltransferase |
| HGCN ID | HGNC:26527 |
| Previous symbols | TMEM76 |
| Inheritance | |
| OMIM | 610453 |
| Chromosome | 8p11.21-p11.1 |
| Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Dementie 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 Skeletdysplasie NGS Visus pakket Retinale genen |
