Table 1 of
Zhu, Mol Vis 2026; 32:70-82. Table 1 of
Zhu, Mol Vis 2026; 32:70-82.
Table 1. Literature review of genes responsible for cornea plana, megalocornea, keratoconus and Brittle cornea syndrome.
| Gene | HGNC ID | Gene MIM number | location | Inheritance | Phenotype | Disorder MIM number | Reported Families |
|---|---|---|---|---|---|---|---|
| KERA | HGNC:6309 | 603,288 | 12q21.33 | AR | CNA2 | 217,300 | 78 |
| CHRDL1 | HGNC:29861 | 300,350 | Xq23 | XLR | MGC1 | 309,300 | 38 |
| VSX1 | HGNC:12723 | 605,020 | 20p11.21 | AD | Keratoconus 1 | 148,300 | 64 |
| TUBA3D | HGNC:24071 | 617,878 | 2q21.1 | AD | Keratoconus 9 | 617,928 | 3 |
| ZNF469 | HGNC:23216 | 612,078 | 16q24.2 | AR | BCS1 | 229,200 | 37 |
| PRDM5 | HGNC:9349 | 614,161 | 4q27 | AR | BCS2 | 614,170 | 24 |