| 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 dystrophy and macula degeneration NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Microcephaly NGS Preconception panel (for consanguineous couples) NGS Primary immunodeficiency PID NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |
