Belgian Genetic Tests database
Corneal dystrophy - UGent
| Full name: |
Corneal dystrophy - UGent
|
| Version number: |
v2
|
| Laboratory: | |
| Created: |
03 Aug 2020 - 09:24
|
| Changed: |
04 May 2023 - 10:10
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| AGBL1 | 99.99 | 1 | |
| CHRDL1 | 99.94 | 1 | |
| CHST6 | 100.00 | 1 | |
| COL17A1 | 99.98 | 1 | |
| COL3A1 | 99.87 | 1 | |
| COL5A1 | 99.99 | 1 | |
| COL8A2 | 99.94 | 1 | |
| CYP4V2 | 99.98 | 1 | |
| DCN | 99.42 | 1 | |
| GRHL2 | 100.00 | 1 | |
| GSN | 99.93 | 1 | |
| KERA | 99.95 | 1 | |
| KRT12 | 99.92 | 1 | |
| KRT3 | 99.89 | 1 | |
| LCAT | 99.97 | 1 | |
| LOXHD1 | 99.99 | 1 | |
| NLRP1 | 95.26 | 1 | |
| NLRP3 | 100.00 | 1 | |
| OVOL2 | 100.00 | 1 | |
| PAX6 | 99.95 | 1 | |
| PIKFYVE | 99.81 | 1 | |
| PITX2 | 99.98 | 1 | |
| PRDM5 | 99.76 | 1 | |
| SLC4A11 | 100.00 | 1 | |
| SOD1 | 99.97 | 1 | |
| STS | 99.81 | 1 | |
| TACSTD2 | 100.00 | 1 | |
| TCF4 | 98.56 | 1 | |
| TGFBI | 99.89 | 1 | |
| UBIAD1 | 99.98 | 1 | |
| VSX1 | 99.93 | 1 | |
| ZEB1 | 100.00 | 1 | |
| ZNF469 | 100.00 | 1 |