| Approved symbol | PNPLA6 |
|---|---|
| Approved name | patatin like phospholipase domain containing 6 |
| HGCN ID | HGNC:16268 |
| Previous symbols | |
| Inheritance | |
| OMIM | 603197 |
| Chromosome | 19p13.2 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Movement disorders NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Skeletal Dysplasia NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |
