| Approved symbol | PANK2 |
|---|---|
| Approved name | pantothenate kinase 2 |
| HGCN ID | HGNC:15894 |
| Previous symbols | C20orf48, NBIA1 |
| Inheritance | |
| OMIM | 606157 |
| Chromosome | 20p13 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Dementia/ALS NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Movement disorders NGS Neurodegeneration with brain iron accumulation NBIA NGS Parkinson NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |
