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 dystrophie en macula degeneratie NGS Glaucoom NGS Leber congenital amaurosis LCA NGS Marfan syndroom en andere marfanachtige beelden NGS Mendelioom NGS Retinitis pigmentosa NGS Visus pakket Retinale genen |