Belgian Genetic Tests database
Craniosynostosis (32 genes) - KUL
| Full name: |
Craniosynostosis (32 genes) - KUL
|
| Version number: |
v1 panel
|
| Laboratory: | |
| Created: |
07 Aug 2023 - 09:25
|
| Changed: |
07 Aug 2023 - 10:04
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ASXL1 | 95.00 | 0 | NM_015338.6/ interpretable range CS1>95% |
| COLEC10 | 95.00 | 0 | NM_006438.5/ interpretable range CS1>95% |
| COLEC11 | 95.00 | 0 | NM_024027.5/ interpretable range CS1>95% |
| CYP26B1 | 95.00 | 0 | NM_019885.4/ interpretable range CS1>95% |
| EFNB1 | 95.00 | 0 | NM_004429.5/ interpretable range CS1>95% |
| ERF | 95.00 | 0 | NM_006494.4/ interpretable range CS1>95% |
| FAM111A | 95.00 | 0 | NM_022074.4/ interpretable range CS1>95% |
| FGFR1 | 95.00 | 0 | NM_023110.3/ interpretable range CS1>95% |
| FGFR2 | 95.00 | 0 | NM_000141.5/ interpretable range CS1>95% |
| FGFR3 | 95.00 | 0 | NM_000142.5/ interpretable range CS1>95% |
| HNRNPK | 95.00 | 0 | NM_002140.5/ interpretable range CS1>95% |
| IL11RA | 95.00 | 0 | NM_001142784.3/ interpretable range CS1>95% |
| IL6ST | 95.00 | 0 | NM_002184.4/ interpretable range CS1>95% |
| LTBP1 | 95.00 | 0 | NM_206943.4/ interpretable range CS1>95% |
| MASP1 | 95.00 | 0 | NM_139125.4/ interpretable range CS1>95% |
| MEGF8 | 95.00 | 0 | NM_001410.3/ interpretable range CS1>95% |
| MSX2 | 95.00 | 0 | NM_002449.5/ interpretable range CS1>95% |
| POR | 95.00 | 0 | NM_001367562.3/ interpretable range CS1>95% |
| RAB23 | 95.00 | 0 | RAB23 NM_183227.3/ interpretable range CS1>95% |
| RECQL4 | 95.00 | 0 | NM_004260.4/ interpretable range CS1>95% |
| RUNX2 | 95.00 | 0 | NM_001024630.4/ interpretable range CS1>95% |
| SIX1 | 95.00 | 0 | NM_005982.4/ interpretable range CS1>95% |
| SKI | 95.00 | 0 | SKI NM_003036.4/ interpretable range CS1>95% |
| SLC25A24 | 95.00 | 0 | NM_013386.5/ interpretable range CS1>95% |
| SMAD6 | 95.00 | 0 | NM_005585.5/ interpretable range CS1>95% |
| SMO | 95.00 | 0 | NM_005631.5/ interpretable range CS1>95% |
| TCF12 | 95.00 | 0 | NM_207036.2/ interpretable range CS1>95% |
| TFAP2B | 95.00 | 0 | NM_003221.4/ interpretable range CS1>95% |
| TRAF7 | 95.00 | 0 | NM_032271.3/ interpretable range CS1>95% |
| TWIST1 | 95.00 | 0 | NM_000474.4/ interpretable range CS1>95% |
| ZIC1 | 95.00 | 0 | NM_003412.4/ interpretable range CS1>95% |
| ZNF462 | 95.00 | 0 | NM_021224.6/ interpretable range CS1>95% |