Belgian Genetic Tests database
Congenital disorders of glycosylation (100 genes) - KUL
| Full name: |
Congenital disorders of glycosylation (100 genes) - KUL
|
| Version number: |
CDG-v6_2022
|
| Laboratory: | |
| Created: |
18 Jul 2019 - 12:12
|
| Changed: |
16 Apr 2024 - 10:05
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ALDOB | 84.08 | 0 | NM_000035.4 |
| ALG1 | 98.93 | 0 | NM_019109.5 |
| ALG10 | 99.70 | 0 | NM_032834.4 |
| ALG11 | 99.76 | 0 | NM_001004127.3 |
| ALG12 | 99.83 | 0 | NM_024105.4 |
| ALG13 | 99.93 | 0 | NM_001099922.3 |
| ALG14 | 99.94 | 0 | NM_144988.4 |
| ALG2 | 99.94 | 0 | NM_033087.4 |
| ALG3 | 99.94 | 0 | NM_005787.6 |
| ALG5 | 99.94 | 0 | NM_013338.5 |
| ALG6 | 99.94 | 0 | NM_013339.4 |
| ALG8 | 99.94 | 0 | NM_024079.5 |
| ALG9 | 99.95 | 0 | NM_024740.2 |
| ATP6AP1 | 99.95 | 0 | NM_001183.6 |
| ATP6AP2 | 99.95 | 0 | NM_005765.3 |
| ATP6V0A2 | 99.95 | 0 | NM_012463.4 |
| ATP6V1A | 99.95 | 0 | NM_001690.4 |
| ATP6V1E1 | 99.96 | 0 | NM_001696.4 |
| B4GALT1 | 99.96 | 0 | NM_001497.4 |
| CAD | 99.96 | 0 | NM_004341.5 |
| CAMLG | 99.97 | 0 | NM_001745.4 |
| CCDC115 | 99.97 | 0 | NM_032357.4 |
| COG1 | 99.97 | 0 | NM_018714.3 |
| COG2 | 99.97 | 0 | NM_007357.3 |
| COG3 | 99.97 | 0 | NM_031431.4 |
| COG4 | 99.97 | 0 | NM_015386.3 |
| COG5 | 99.97 | 0 | NM_006348.5 |
| COG6 | 99.97 | 0 | NM_020751.3 |
| COG7 | 99.97 | 0 | NM_153603.4 |
| COG8 | 99.98 | 0 | NM_032382.5 |
| DAD1 | 99.98 | 0 | NM_001344.4 |
| DDOST | 99.98 | 0 | NM_005216.5 |
| DHDDS | 99.98 | 0 | NM_024887.4 |
| DHRSX | 99.98 | 0 | NM_145177.3 |
| DOLK | 99.98 | 0 | NM_014908.4 |
| DOLPP1 | 99.98 | 0 | NM_020438.5 |
| DPAGT1 | 99.98 | 0 | NM_001382.4 |
| DPM1 | 99.98 | 0 | NM_003859.3 |
| DPM2 | 99.98 | 0 | NM_003863.4 |
| DPM3 | 99.98 | 0 | NM_153741.2 |
| EDEM3 | 99.98 | 0 | NM_025191.4 |
| FCSK | 99.99 | 0 | NM_145059.3 |
| FUT1 | 99.99 | 0 | NM_000148.4 |
| FUT8 | 99.99 | 0 | NM_178155.3 |
| G6PC3 | 99.99 | 0 | NM_138387.4 |
| GALE | 99.99 | 0 | NM_000403.4 |
| GALK1 | 99.99 | 0 | NM_000154.2 |
| GALM | 99.99 | 0 | NM_138801.3 |
| GALT | 99.99 | 0 | NM_000155.4 |
| GANAB | 99.99 | 0 | NM_198335.4 |
| GET3 | 99.99 | 0 | NM_004317.4 |
| GET4 | 99.99 | 0 | NM_015949.3 |
| GFPT1 | 99.99 | 0 | NM_001244710.2 |
| GFUS | 99.99 | 0 | NM_003313.4 |
| GMPPA | 99.99 | 0 | NM_205847.3 |
| GMPPB | 99.99 | 0 | NM_013334.4 |
| GNE | 99.99 | 0 | NM_001128227.3 |
| GNPNAT1 | 99.99 | 0 | NM_198066.4 |
| MAGT1 | 99.99 | 0 | NM_032121.5 |
| MAN1B1 | 99.99 | 0 | NM_016219.5 |
| MAN2B2 | 99.99 | 0 | NM_015274.3 |
| MGAT2 | 99.99 | 0 | NM_002408.4 |
| MOGS | 99.99 | 0 | NM_006302.3 |
| MPDU1 | 100.00 | 0 | NM_004870.4 |
| MPI | 100.00 | 0 | NM_002435.3 |
| NANS | 100.00 | 0 | NM_018946.4 |
| NPL | 100.00 | 0 | NM_030769.3 |
| NUS1 | 100.00 | 0 | NM_138459.5 |
| OST4 | 100.00 | 0 | NM_001134693.2 |
| OSTC | 100.00 | 0 | NM_001267818.2 |
| PGM1 | 100.00 | 0 | NM_002633.3 |
| PGM3 | 100.00 | 0 | NM_001199917.2 |
| PMM2 | 100.00 | 0 | NM_000303.3 |
| PRKCSH | 100.00 | 0 | NM_002743.3 |
| RFT1 | 100.00 | 0 | NM_052859.4 |
| RPN1 | 100.00 | 0 | NM_002950.4 |
| RPN2 | 100.00 | 0 | NM_002951.5 |
| SEC23B | 100.00 | 0 | NM_006363.6 |
| SLC10A7 | 100.00 | 0 | NM_001300842.3 |
| SLC35A1 | 100.00 | 0 | NM_006416.5 |
| SLC35A2 | 100.00 | 0 | NM_001042498.3 |
| SLC35A3 | 100.00 | 0 | NM_012243.3 |
| SLC35C1 | 100.00 | 0 | NM_018389.5 |
| SLC35D1 | 100.00 | 0 | NM_015139.3 |
| SLC37A4 | 100.00 | 0 | NM_001164277.2 |
| SLC39A8 | 100.00 | 0 | NM_022154.5 |
| SLC9A7 | 100.00 | 0 | NM_032591.3 |
| SRD5A3 | 100.00 | 0 | NM_024592.5 |
| SSR3 | 100.00 | 0 | NM_007107.5 |
| SSR4 | 100.00 | 0 | NM_001204526.1 |
| STT3A | 100.00 | 0 | NM_001278503.2 |
| STT3B | 100.00 | 0 | NM_178862.3 |
| STX5 | 100.00 | 0 | NM_003164.5 |
| TMEM165 | 100.00 | 0 | NM_018475.5 |
| TMEM199 | 100.00 | 0 | NM_152464.3 |
| TRAPPC9 | 100.00 | 0 | NM_031466.8 |
| TUSC3 | 100.00 | 0 | NM_006765.4 |
| UGDH | 100.00 | 0 | NM_003359.4 |
| UGP2 | 100.00 | 0 | NM_006759.4 |
| VMA21 | 100.00 | 0 | NM_001017980.4 |