| Approved symbol | POMGNT1 |
|---|---|
| Approved name | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| HGCN ID | HGNC:19139 |
| Previous symbols | MEB |
| Inheritance | |
| OMIM | 606822 |
| Chromosome | 1p34.1 |
| Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Foetale akinesie-deformatiesequentie FADS NGS Glaucoom NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Pontocerebellaire hypoplasie PCH NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Spieraandoeningen NGS Visus pakket Retinale genen |
