Approved symbol | RPIA |
---|---|
Approved name | ribose 5-phosphate isomerase A |
HGCN ID | HGNC:10297 |
Previous symbols | |
Inheritance | |
OMIM | 180430 |
Chromosome | 2p11.2 |
Panel(s) |
NGS Intellectual disability NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders NGS White matter disease |