List of diseases covered by
Corneal Dystrophy NGS panel
Gene | Condition |
CHST6 | Macular corneal dystrophy |
COL5A1 | Ehlers-Danlos syndrome, classic type, 1 |
COL17A1 | Epithelial recurrent erosion dystrophy |
COL8A2 | Corneal dystrophy, Fuchs endothelial, 1; Corneal dystrophy, posterior polymorphous 2 |
CYP4V2 | Bietti crystalline corneoretinal dystrophy |
DCN | Corneal dystrophy, congenital stromal |
GSN | Amyloidosis, Finnish type |
KRT3 | Meesmann corneal dystrophy |
KRT12 | Meesmann corneal dystrophy |
LOXHD1 | Deafness, autosomal recessive 77 |
PIKFYVE | Corneal fleck dystrophy |
PRDM5 | Brittle cornea syndrome 2 |
SLC4A11 | Corneal dystrophy, Fuchs endothelial, 4; Corneal endothelial dystrophy and perceptive deafness; Corneal endothelial dystrophy, autosomal recessive |
SOD1 | Amyotrophic lateral sclerosis 1 |
ZEB1 | Corneal dystrophy, Fuchs endothelial, 6; Corneal dystrophy, posterior polymorphous, 3 |
ZNF469 | Brittle cornea syndrome 1 |
TACSTD2 | Corneal dystrophy, gelatinous drop-like |
TGFBI | Corneal dystrophy, Avellino type; Corneal dystrophy, epithelial basement membrane; Corneal dystrophy, Groenouw type I; Corneal dystrophy, lattice type I; Corneal dystrophy, lattice type IIIA; Corneal dystrophy, Reis-Bucklers type; Corneal dystrophy, Thiel-Behnke type |
UBIAD1 | Corneal dystrophy, Schnyder type |
VSX1 | Keratoconus 1 |