Approved symbol | POMGNT2 |
---|---|
Approved name | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
HGCN ID | HGNC:25902 |
Previous symbols | C3orf39, GTDC2 |
Inheritance | |
OMIM | 614828 |
Chromosome | 3p22.1 |
Panel(s) |
NGS Fetal akinesia deformation sequence FADS NGS Intellectual disability NGS Mendeliome NGS Muscle disorders NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |