Belgian Genetic Tests database
Congenital disorders of glycosylation (79 genes) - KUL
| Full name: |
Congenital disorders of glycosylation (79 genes) - KUL
|
| Version number: |
CDG-v5
|
| Laboratory: | |
| Created: |
18 Jul 2019 - 12:12
|
| Changed: |
07 Sep 2022 - 11:37
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ALDOB | 95.00 | 0 | NM_000035.3/ interpretable range CS1>95% |
| ALG1 | 95.00 | 0 | NM_019109.4/ interpretable range CS1>95% |
| ALG10 | 95.00 | 0 | NM_032834.3/ interpretable range CS1>95% |
| ALG11 | 95.00 | 0 | NM_001004127.2/ interpretable range CS1>95% |
| ALG12 | 95.00 | 0 | NM_024105.3/ interpretable range CS1>95% |
| ALG13 | 95.00 | 0 | NM_001099922.2/ interpretable range CS1>95% |
| ALG14 | 95.00 | 0 | NM_144988.3/ interpretable range CS1>95% |
| ALG2 | 95.00 | 0 | NM_033087.3/ interpretable range CS1>95% |
| ALG3 | 95.00 | 0 | NM_005787.5/ interpretable range CS1>95% |
| ALG5 | 95.00 | 0 | NM_013338.4/ interpretable range CS1>95% |
| ALG6 | 95.00 | 0 | NM_013339.3/ interpretable range CS1>95% |
| ALG8 | 95.00 | 0 | NM_024079.4/ interpretable range CS1>95% |
| ALG9 | 95.00 | 0 | NM_024740.2/ interpretable range CS1>95% |
| ATP6V0A2 | 95.00 | 0 | NM_012463.3/ interpretable range CS1>95% |
| ATP9B | 95.00 | 0 | NM_198531.4/ interpretable range CS1>95% |
| B3GLCT | 95.00 | 0 | NM_194318.3/ interpretable range CS1>95% |
| B4GALT1 | 95.00 | 0 | NM_001497.3/ interpretable range CS1>95% |
| COG1 | 95.00 | 0 | NM_018714.2/ interpretable range CS1>95% |
| COG2 | 95.00 | 0 | NM_007357.2/ interpretable range CS1>95% |
| COG3 | 95.00 | 0 | NM_031431.3/ interpretable range CS1>95% |
| COG4 | 95.00 | 0 | NM_015386.2/ interpretable range CS1>95% |
| COG5 | 95.00 | 0 | NM_006348.3/ interpretable range CS1>95% |
| COG6 | 95.00 | 0 | NM_020751.2/ interpretable range CS1>95% |
| COG7 | 95.00 | 0 | NM_153603.3/ interpretable range CS1>95% |
| COG8 | 95.00 | 0 | NM_032382.4/ interpretable range CS1>95% |
| DAD1 | 95.00 | 0 | NM_001344.3/ interpretable range CS1>95% |
| DDOST | 95.00 | 0 | NM_005216.4/ interpretable range CS1>95% |
| DHDDS | 95.00 | 0 | NM_024887.3/ interpretable range CS1>95% |
| DOLK | 95.00 | 0 | NM_014908.3/ interpretable range CS1>95% |
| DPAGT1 | 95.00 | 0 | NM_001382.3/ interpretable range CS1>95% |
| DPM1 | 95.00 | 0 | NM_003859.2/ interpretable range CS1>95% |
| DPM2 | 95.00 | 0 | NM_003863.3/ interpretable range CS1>95% |
| DPM3 | 95.00 | 0 | NM_153741.1/ interpretable range CS1>95% |
| FKRP | 95.00 | 0 | NM_024301.4/ interpretable range CS1>95% |
| FKTN | 95.00 | 0 | NM_001079802.1/ interpretable range CS1>95% |
| FUT1 | 95.00 | 0 | NM_000148.3/ interpretable range CS1>95% |
| GALE | 95.00 | 0 | NM_000403.3/ interpretable range CS1>95% |
| GALK1 | 95.00 | 0 | NM_000154.1/ interpretable range CS1>95% |
| GALT | 95.00 | 0 | NM_000155.3/ interpretable range CS1>95% |
| GFPT1 | 95.00 | 0 | NM_002056.3/ interpretable range CS1>95% |
| GMPPA | 95.00 | 0 | NM_205847.2/ interpretable range CS1>95% |
| GMPPB | 95.00 | 0 | NM_013334.3/ interpretable range CS1>95% |
| GNE | 95.00 | 0 | NM_001128227.2/ interpretable range CS1>95% |
| LARGE1 | 95.00 | 0 | NM_004737.6/ interpretable range CS1>95% |
| MAGT1 | 95.00 | 0 | NM_032121.5/ interpretable range CS1>95% |
| MAN1B1 | 95.00 | 0 | NM_016219.4/ interpretable range CS1>95% |
| MGAT1 | 95.00 | 0 | NM_001114618.1/ interpretable range CS1>95% |
| MGAT2 | 95.00 | 0 | NM_002408.3/ interpretable range CS1>95% |
| MOGS | 95.00 | 0 | NM_006302.2/ interpretable range CS1>95% |
| MPDU1 | 95.00 | 0 | NM_004870.3/ interpretable range CS1>95% |
| MPI | 95.00 | 0 | NM_002435.2/ interpretable range CS1>95% |
| OST4 | 95.00 | 0 | NM_001134693.1/ interpretable range CS1>95% |
| PGM1 | 95.00 | 0 | NM_002633.2/ interpretable range CS1>95% |
| PGM2 | 95.00 | 0 | NM_018290.3/ interpretable range CS1>95% |
| PGM3 | 95.00 | 0 | NM_001199917.1/ interpretable range CS1>95% |
| PIGA | 95.00 | 0 | NM_002641.3/ interpretable range CS1>95% |
| PIGL | 95.00 | 0 | NM_004278.3/ interpretable range CS1>95% |
| PIGM | 95.00 | 0 | NM_145167.2/ interpretable range CS1>95% |
| PIGN | 95.00 | 0 | NM_176787.4/ interpretable range CS1>95% |
| PIGV | 95.00 | 0 | NM_017837.3/ interpretable range CS1>95% |
| PMM2 | 95.00 | 0 | NM_000303.2/ interpretable range CS1>95% |
| POMGNT1 | 95.00 | 0 | NM_017739.3/ interpretable range CS1>95% |
| POMT1 | 95.00 | 0 | NM_007171.3/ interpretable range CS1>95% |
| POMT2 | 95.00 | 0 | NM_013382.5/ interpretable range CS1>95% |
| RFT1 | 95.00 | 0 | NM_052859.3/ interpretable range CS1>95% |
| RPN1 | 95.00 | 0 | NM_002950.3/ interpretable range CS1>95% |
| RPN2 | 95.00 | 0 | NM_002951.4/ interpretable range CS1>95% |
| SEC23B | 95.00 | 0 | NM_032985.5/ interpretable range CS1>95% |
| SLC35A1 | 95.00 | 0 | NM_006416.4/ interpretable range CS1>95% |
| SLC35A3 | 95.00 | 0 | NM_012243.2/ interpretable range CS1>95% |
| SLC35C1 | 95.00 | 0 | NM_018389.4/ interpretable range CS1>95% |
| SLC35D1 | 95.00 | 0 | NM_015139.2/ interpretable range CS1>95% |
| SRD5A3 | 95.00 | 0 | NM_024592.4/ interpretable range CS1>95% |
| ST3GAL3 | 95.00 | 0 | NM_174963.4/ interpretable range CS1>95% |
| ST3GAL5 | 95.00 | 0 | NM_003896.3/ interpretable range CS1>95% |
| STT3A | 95.00 | 0 | NM_152713.4/ interpretable range CS1>95% |
| STT3B | 95.00 | 0 | NM_178862.2/ interpretable range CS1>95% |
| TMEM165 | 95.00 | 0 | NM_018475.4/ interpretable range CS1>95% |
| TUSC3 | 95.00 | 0 | NM_006765.3/ interpretable range CS1>95% |