Approved symbol | PLOD1 |
---|---|
Approved name | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
HGCN ID | HGNC:9081 |
Previous symbols | LLH, PLOD |
Inheritance | |
OMIM | 153454 |
Chromosome | 1p36.22 |
Panel(s) |
NGS Ehlers-Danlos syndromes NGS Marfan syndrome and marfan-like disorders NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Skeletal Dysplasia NGS Treatable metabolic neurodegenerative disorders |