Approved symbol | POMT1 |
---|---|
Approved name | protein O-mannosyltransferase 1 |
HGCN ID | HGNC:9202 |
Previous symbols | |
Inheritance | |
OMIM | 607423 |
Chromosome | 9q34.13 |
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 |