| Approved symbol | VPS13B |
|---|---|
| Approved name | vacuolar protein sorting 13 homolog B |
| HGCN ID | HGNC:2183 |
| Previous symbols | CHS1, COH1 |
| Inheritance | |
| OMIM | 607817 |
| Chromosome | 8q22.2 |
| Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Microcefalie NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Primaire immunodeficientie PID NGS Retinitis pigmentosa NGS Visus pakket Retinale genen |
