Approved symbol | POMT2 |
---|---|
Approved name | protein O-mannosyltransferase 2 |
HGCN ID | HGNC:19743 |
Previous symbols | |
Inheritance | |
OMIM | 607439 |
Chromosome | 14q24.3 |
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 |