Approved symbol | PANK2 |
---|---|
Approved name | pantothenate kinase 2 |
HGCN ID | HGNC:15894 |
Previous symbols | C20orf48, NBIA1 |
Inheritance | |
OMIM | 606157 |
Chromosome | 20p13 |
Panel(s) |
NGS Bewegingsstoornissen NGS Cone-rod dystrophie en macula degeneratie NGS Dementie NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Neurodegeneration with brain iron accumulation NBIA NGS Parkinson NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Visus pakket Retinale genen |