Approved symbol | PNP |
---|---|
Approved name | purine nucleoside phosphorylase |
HGCN ID | HGNC:7892 |
Previous symbols | NP |
Inheritance | |
OMIM | 164050 |
Chromosome | 14q11.2 |
Panel(s) |
NGS Intellectual disability NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Primary immunodeficiency PID NGS Treatable metabolic neurodegenerative disorders |