| Approved symbol | EFEMP1 |
|---|---|
| Approved name | EGF containing fibulin extracellular matrix protein 1 |
| HGCN ID | HGNC:3218 |
| Previous symbols | DHRD, FBNL |
| Inheritance | |
| OMIM | 601548 |
| Chromosome | 2p16.1 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Cutis laxa and related disorders NGS Glaucoom NGS Leber’s congenital amaurosis LCA NGS Marfan syndrome and marfan-like disorders NGS Mendeliome NGS Retinitis pigmentosa NGS Vision disorder CSNB |
