Approved symbol | PYCR1 |
---|---|
Approved name | pyrroline-5-carboxylate reductase 1 |
HGCN ID | HGNC:9721 |
Previous symbols | |
Inheritance | |
OMIM | 179035 |
Chromosome | 17q25.3 |
Panel(s) |
NGS Cutis laxa en gerelateerde aandoeningen NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Skeletdysplasie |