Approved symbol | TOPORS |
---|---|
Approved name | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
HGCN ID | HGNC:21653 |
Previous symbols | RP31 |
Inheritance | |
OMIM | 609507 |
Chromosome | 9p21.1 |
Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Retinitis pigmentosa NGS Vision disorder CSNB |