| 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 dystrophy and macula degeneration NGS Fetal akinesia deformation sequence FADS NGS Glaucoom NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Muscle disorders NGS Pontocerebellar hypoplasia PCH NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |
