Approved symbol | GNPTAB |
---|---|
Approved name | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
HGCN ID | HGNC:29670 |
Previous symbols | GNPTA |
Inheritance | |
OMIM | 607840 |
Chromosome | 12q23.2 |
Panel(s) |
NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Skeletdysplasie |