Belgian Genetic Tests database
Lysomal Storage (64 genes) - VUB
| Full name: |
Lysomal Storage (64 genes) - VUB
|
| Description: |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393649/table/mgg3527-tbl-0001/?report=objectonly (version 1)
https://www.brightcore.be/gene-panels/mendeliome---lysosomal-storage-disease-(lsd)---v11 |
| Type of panel: | |
| Version number: |
Version 11
|
| Laboratory: | |
| Created: |
16 Jul 2019 - 10:51
|
| Changed: |
30 Aug 2022 - 15:50
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ACD | 100.00 | 0 | No comment |
| ADCY5 | 94.52 | 0 | No comment |
| AGA | 100.00 | 0 | No comment |
| ARSA | 100.00 | 0 | No comment |
| ASAH1 | 99.94 | 0 | No comment |
| CHIT1 | 100.00 | 0 | No comment |
| CLN3 | 100.00 | 0 | No comment |
| CLN5 | 99.94 | 0 | No comment |
| CLN6 | 90.35 | 0 | No comment |
| CLN8 | 100.00 | 0 | No comment |
| CTNS | 100.00 | 0 | No comment |
| CTSA | 100.00 | 0 | No comment |
| CTSC | 100.00 | 0 | No comment |
| CTSD | 99.45 | 0 | No comment |
| CTSK | 100.00 | 0 | No comment |
| DGUOK | 100.00 | 0 | No comment |
| FBXL4 | 100.00 | 0 | No comment |
| FUCA1 | 100.00 | 0 | No comment |
| GAA | 100.00 | 0 | No comment |
| GALC | 98.44 | 0 | No comment |
| GALNS | 96.18 | 0 | No comment |
| GBA1 | 100.00 | 0 | No comment |
| GLA | 100.00 | 0 | No comment |
| GLB1 | 100.00 | 0 | No comment |
| GM2A | 100.00 | 0 | No comment |
| GNPTAB | 100.00 | 0 | No comment |
| GNPTG | 94.69 | 0 | No comment |
| GNS | 100.00 | 0 | No comment |
| GUSB | 100.00 | 0 | No comment |
| HEXA | 100.00 | 0 | No comment |
| HEXB | 99.82 | 0 | No comment |
| HGSNAT | 93.95 | 0 | No comment |
| HYAL1 | 100.00 | 0 | No comment |
| IDS | 100.00 | 0 | No comment |
| IDUA | 88.67 | 0 | No comment |
| LAMP2 | 100.00 | 0 | No comment |
| LIPA | 100.00 | 0 | No comment |
| MAN2B1 | 100.00 | 0 | No comment |
| MANBA | 99.97 | 0 | No comment |
| MCOLN1 | 97.27 | 0 | No comment |
| MFSD8 | 100.00 | 0 | No comment |
| MGME1 | 100.00 | 0 | No comment |
| MPV17 | 100.00 | 0 | No comment |
| NAGA | 100.00 | 0 | No comment |
| NAGLU | 87.38 | 0 | No comment |
| NEU1 | 100.00 | 0 | No comment |
| NPC1 | 98.40 | 0 | No comment |
| NPC2 | 100.00 | 0 | No comment |
| OCRL | 99.77 | 0 | No comment |
| POLG | 100.00 | 0 | No comment |
| PPT1 | 100.00 | 0 | No comment |
| PSAP | 100.00 | 0 | No comment |
| RRM2B | 100.00 | 0 | No comment |
| SGSH | 99.99 | 0 | No comment |
| SLC17A5 | 100.00 | 0 | No comment |
| SLURP1 | 85.73 | 0 | No comment |
| SMPD1 | 100.00 | 0 | No comment |
| STS | 100.00 | 0 | No comment |
| SUCLA2 | 100.00 | 0 | No comment |
| SUCLG1 | 95.74 | 0 | No comment |
| SUMF1 | 100.00 | 0 | No comment |
| TK2 | 95.90 | 0 | No comment |
| TWNK | 100.00 | 0 | No comment |
| TYMP | 91.72 | 0 | No comment |