| Approved symbol | LARGE1 |
|---|---|
| Approved name | LARGE xylosyl- and glucuronyltransferase 1 |
| HGCN ID | HGNC:6511 |
| Previous symbols | LARGE |
| Inheritance | |
| OMIM | 603590 |
| Chromosome | 22q12.3 |
| Panel(s) |
NGS Fetal akinesia deformation sequence FADS NGS Intellectual disability NGS Mendeliome NGS Muscle disorders NGS Pontocerebellar hypoplasia PCH NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |
