| Approved symbol | PMM2 |
|---|---|
| Approved name | phosphomannomutase 2 |
| HGCN ID | HGNC:9115 |
| Previous symbols | CDG1 |
| Inheritance | |
| OMIM | 601785 |
| Chromosome | 16p13.2 |
| Panel(s) |
NGS Cornelia de Lange syndrome NGS Epilepsy NGS Intellectual disability NGS Lymphedema NGS Mendeliome NGS Movement disorders NGS Pontocerebellar hypoplasia PCH NGS Preconception panel NGS Preconception panel (for consanguineous couples) NGS Primary immunodeficiency PID NGS Treatable metabolic neurodegenerative disorders |
