Belgian Genetic Tests database
Cutis Laxa / Geroderma osteodysplasticum - UGent
| Full name: |
Cutis Laxa / Geroderma osteodysplasticum - UGent
|
| Laboratory: | |
| Created: |
11 Jun 2019 - 10:26
|
| Changed: |
14 Dec 2022 - 14:40
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ALDH18A1 | 100.00 | 1 | |
| ATP6V0A2 | 100.00 | 1 | |
| ATP6V1A | 100.00 | 1 | |
| ATP6V1E1 | 100.00 | 1 | |
| ATP7A | 100.00 | 1 | |
| COG7 | 100.00 | 1 | |
| EFEMP1 | 100.00 | 1 | |
| EFEMP2 | 100.00 | 1 | |
| ELN | 100.00 | 1 | |
| FBLN5 | 100.00 | 1 | |
| GORAB | 100.00 | 1 | |
| LOX | 100.00 | 1 | |
| LTBP1 | 100.00 | 1 | |
| LTBP4 | 100.00 | 1 | |
| NAA10 | 100.00 | 1 | |
| PYCR1 | 100.00 | 1 | |
| RIN2 | 100.00 | 1 | |
| TALDO1 | 100.00 | 1 |