Belgian Genetic Tests database
Ataxia (348 genes) - ULB
| Full name: |
Ataxia (348 genes) - ULB
|
| Laboratory: | |
| Created: |
12 Jul 2019 - 12:08
|
| Changed: |
20 Mar 2024 - 09:22
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| AAAS | 100.00 | 0 | No comment |
| ABCB7 | 99.99 | 0 | No comment |
| ABCD1 | 97.56 | 0 | No comment |
| ABHD12 | 88.30 | 0 | No comment |
| ABHD5 | 99.85 | 0 | No comment |
| ACADVL | 98.04 | 0 | No comment |
| ACD | 99.99 | 0 | No comment |
| ACO2 | 100.00 | 0 | No comment |
| ADGRG1 | 99.99 | 0 | No comment |
| AFG3L2 | 94.80 | 0 | No comment |
| AHI1 | 100.00 | 0 | No comment |
| ALAS2 | 100.00 | 0 | No comment |
| ALDH18A1 | 100.00 | 0 | No comment |
| ALDH5A1 | 84.13 | 0 | No comment |
| ALG6 | 100.00 | 0 | No comment |
| ALS2 | 100.00 | 0 | No comment |
| AMACR | 96.78 | 0 | No comment |
| AMPD2 | 99.90 | 0 | No comment |
| AMT | 100.00 | 0 | No comment |
| ANO10 | 100.00 | 0 | No comment |
| AP1S2 | 100.00 | 0 | No comment |
| APTX | 99.96 | 0 | No comment |
| ARL13B | 99.98 | 0 | No comment |
| ARL6 | 100.00 | 0 | No comment |
| ARSA | 100.00 | 0 | No comment |
| ARX | 100.00 | 0 | No comment |
| ASPA | 100.00 | 0 | No comment |
| ATCAY | 100.00 | 0 | No comment |
| ATG5 | 100.00 | 0 | No comment |
| ATL1 | 99.89 | 0 | No comment |
| ATM | 100.00 | 0 | No comment |
| ATP1A3 | 100.00 | 0 | No comment |
| ATP2B2 | 100.00 | 0 | No comment |
| ATP2B3 | 99.89 | 0 | No comment |
| ATP7B | 100.00 | 0 | No comment |
| ATP8A2 | 99.91 | 0 | No comment |
| ATXN1 | 100.00 | 0 | No comment |
| ATXN10 | 98.19 | 0 | No comment |
| ATXN2 | 93.25 | 0 | No comment |
| ATXN3 | 99.47 | 0 | No comment |
| ATXN7 | 98.67 | 0 | No comment |
| B9D1 | 99.89 | 0 | No comment |
| BBS1 | 100.00 | 0 | No comment |
| BBS10 | 100.00 | 0 | No comment |
| BBS12 | 100.00 | 0 | No comment |
| BBS2 | 100.00 | 0 | No comment |
| BBS4 | 99.97 | 0 | No comment |
| BBS5 | 100.00 | 0 | No comment |
| BBS7 | 99.99 | 0 | No comment |
| BBS9 | 99.93 | 0 | No comment |
| BEAN1 | 100.00 | 0 | No comment |
| BIVM | 100.00 | 0 | No comment |
| BSCL2 | 100.00 | 0 | No comment |
| BTD | 100.00 | 0 | No comment |
| C19ORF12 | 100.00 | 0 | No comment |
| CA8 | 100.00 | 0 | No comment |
| CACNA1A | 99.53 | 0 | No comment |
| CACNA1G | 99.97 | 0 | No comment |
| CACNB4 | 99.95 | 0 | No comment |
| CAMTA1 | 99.98 | 0 | No comment |
| CAPN1 | 99.97 | 0 | No comment |
| CASK | 99.99 | 0 | No comment |
| CC2D2A | 100.00 | 0 | No comment |
| CCDC88C | 99.64 | 0 | No comment |
| CEP290 | 100.00 | 0 | No comment |
| CEP41 | 100.00 | 0 | No comment |
| CHMP1A | 100.00 | 0 | No comment |
| CLCN2 | 100.00 | 0 | No comment |
| CLN5 | 98.80 | 0 | No comment |
| CLN6 | 90.40 | 0 | No comment |
| CLPP | 97.95 | 0 | No comment |
| COA7 | 100.00 | 0 | No comment |
| COASY | 100.00 | 0 | No comment |
| COG5 | 99.95 | 0 | No comment |
| COQ2 | 99.66 | 0 | No comment |
| COQ6 | 100.00 | 0 | No comment |
| COQ8A | 99.92 | 0 | No comment |
| COQ9 | 100.00 | 0 | No comment |
| COX20 | 95.39 | 0 | No comment |
| CP | 100.00 | 0 | No comment |
| CPLANE1 | 100.00 | 0 | No comment |
| CRAT | 99.29 | 0 | No comment |
| CSTB | 98.75 | 0 | No comment |
| CWF19L1 | 100.00 | 0 | No comment |
| CYP27A1 | 99.38 | 0 | No comment |
| CYP2U1 | 93.20 | 0 | No comment |
| CYP7B1 | 95.41 | 0 | No comment |
| DARS1 | 100.00 | 0 | No comment |
| DARS2 | 100.00 | 0 | No comment |
| DDB2 | 100.00 | 0 | No comment |
| DDHD2 | 100.00 | 0 | No comment |
| DLAT | 100.00 | 0 | No comment |
| DMXL2 | 100.00 | 0 | No comment |
| DNAJC19 | 99.65 | 0 | No comment |
| DNAJC3 | 99.99 | 0 | No comment |
| DNAJC5 | 100.00 | 0 | No comment |
| DNMT1 | 99.54 | 0 | No comment |
| EBF3 | 99.94 | 0 | No comment |
| EEF2 | 100.00 | 0 | No comment |
| EIF2B1 | 100.00 | 0 | No comment |
| EIF2B2 | 99.61 | 0 | No comment |
| EIF2B3 | 98.87 | 0 | No comment |
| EIF2B4 | 100.00 | 0 | No comment |
| EIF2B5 | 100.00 | 0 | No comment |
| ELOVL4 | 100.00 | 0 | No comment |
| ELOVL5 | 100.00 | 0 | No comment |
| EPM2A | 97.21 | 0 | No comment |
| ERCC2 | 99.22 | 0 | No comment |
| ERCC3 | 100.00 | 0 | No comment |
| ERCC4 | 99.99 | 0 | No comment |
| ERCC5 | 100.00 | 0 | No comment |
| ETFA | 100.00 | 0 | No comment |
| ETFB | 100.00 | 0 | No comment |
| ETFDH | 100.00 | 0 | No comment |
| EXOSC3 | 100.00 | 0 | No comment |
| FA2H | 95.71 | 0 | No comment |
| FARS2 | 100.00 | 0 | No comment |
| FBXL4 | 100.00 | 0 | No comment |
| FDXR | 100.00 | 0 | No comment |
| FGF14 | 100.00 | 0 | No comment |
| FLVCR1 | 100.00 | 0 | No comment |
| FMR1 | 99.99 | 0 | No comment |
| FOLR1 | 100.00 | 0 | No comment |
| FRMD7 | 99.98 | 0 | No comment |
| FXN | 100.00 | 0 | No comment |
| GALC | 98.98 | 0 | No comment |
| GBA1 | 100.00 | 0 | No comment |
| GBA2 | 100.00 | 0 | No comment |
| GBE1 | 100.00 | 0 | No comment |
| GCDH | 100.00 | 0 | No comment |
| GCLC | 99.98 | 0 | No comment |
| GCSH | 73.97 | 0 | No comment |
| GFAP | 100.00 | 0 | No comment |
| GJC2 | 96.72 | 0 | No comment |
| GLB1 | 100.00 | 0 | No comment |
| GLDC | 97.39 | 0 | No comment |
| GLRX5 | 100.00 | 0 | No comment |
| GM2A | 100.00 | 0 | No comment |
| GOSR2 | 100.00 | 0 | No comment |
| GPAA1 | 95.08 | 0 | No comment |
| GPR143 | 89.09 | 0 | No comment |
| GRID2 | 100.00 | 0 | No comment |
| GRM1 | 99.99 | 0 | No comment |
| GSS | 100.00 | 0 | No comment |
| HARS2 | 100.00 | 0 | No comment |
| HEPACAM | 99.85 | 0 | No comment |
| HERC1 | 100.00 | 0 | No comment |
| HEXA | 100.00 | 0 | No comment |
| HEXB | 99.19 | 0 | No comment |
| HIBCH | 100.00 | 0 | No comment |
| HPRT1 | 92.71 | 0 | No comment |
| HTRA1 | 75.65 | 0 | No comment |
| IFRD1 | 98.86 | 0 | No comment |
| IGDCC3 | 95.07 | 0 | No comment |
| INPP5E | 99.14 | 0 | No comment |
| IRF2BPL | 97.56 | 0 | No comment |
| ITM2B | 100.00 | 0 | No comment |
| ITPR1 | 99.99 | 0 | No comment |
| KCNA1 | 100.00 | 0 | No comment |
| KCNC3 | 76.20 | 0 | No comment |
| KCND3 | 100.00 | 0 | No comment |
| KCNJ10 | 100.00 | 0 | No comment |
| KCNJ6 | 100.00 | 0 | No comment |
| KCNMA1 | 99.93 | 0 | No comment |
| KIF1A | 98.74 | 0 | No comment |
| KIF1C | 100.00 | 0 | No comment |
| KIF5A | 100.00 | 0 | No comment |
| KIF5C | 100.00 | 0 | No comment |
| KIF7 | 99.64 | 0 | No comment |
| L2HGDH | 99.75 | 0 | No comment |
| LAMA1 | 99.79 | 0 | No comment |
| LAMB1 | 100.00 | 0 | No comment |
| LARS2 | 100.00 | 0 | No comment |
| LMNB1 | 97.00 | 0 | No comment |
| LRPPRC | 98.80 | 0 | No comment |
| LYST | 100.00 | 0 | No comment |
| MED12 | 99.98 | 0 | No comment |
| MFSD8 | 100.00 | 0 | No comment |
| MKKS | 100.00 | 0 | No comment |
| MKS1 | 100.00 | 0 | No comment |
| MLC1 | 98.57 | 0 | No comment |
| MMACHC | 100.00 | 0 | No comment |
| MME | 100.00 | 0 | No comment |
| MRE11 | 99.05 | 0 | No comment |
| MSTO1 | 99.96 | 0 | No comment |
| MTFMT | 97.83 | 0 | No comment |
| MTPAP | 99.98 | 0 | No comment |
| MTRFR | 100.00 | 0 | No comment |
| MTRR | 100.00 | 0 | No comment |
| MTTP | 100.00 | 0 | No comment |
| MVK | 100.00 | 0 | No comment |
| NANS | 100.00 | 0 | No comment |
| NDUFAF6 | 95.61 | 0 | No comment |
| NDUFS1 | 100.00 | 0 | No comment |
| NDUFS2 | 100.00 | 0 | No comment |
| NDUFS4 | 99.96 | 0 | No comment |
| NDUFS7 | 93.34 | 0 | No comment |
| NDUFS8 | 100.00 | 0 | No comment |
| NDUFV1 | 99.62 | 0 | No comment |
| NEFL | 99.62 | 0 | No comment |
| NEU1 | 100.00 | 0 | No comment |
| NEXMIF | 100.00 | 0 | No comment |
| NHLRC1 | 96.01 | 0 | No comment |
| NKX6-2 | 94.10 | 0 | No comment |
| NOL3 | 100.00 | 0 | No comment |
| NOP56 | 99.99 | 0 | No comment |
| NOTCH3 | 93.46 | 0 | No comment |
| NPC1 | 97.50 | 0 | No comment |
| NPC2 | 100.00 | 0 | No comment |
| NPHP1 | 100.00 | 0 | No comment |
| NUBPL | 99.92 | 0 | No comment |
| OCLN | 100.00 | 0 | No comment |
| OFD1 | 97.13 | 0 | No comment |
| OPA3 | 100.00 | 0 | No comment |
| OPHN1 | 99.94 | 0 | No comment |
| OTUD4 | 100.00 | 0 | No comment |
| PAX6 | 100.00 | 0 | No comment |
| PDGFRB | 99.98 | 0 | No comment |
| PDHX | 100.00 | 0 | No comment |
| PDSS1 | 85.11 | 0 | No comment |
| PDSS2 | 100.00 | 0 | No comment |
| PDYN | 100.00 | 0 | No comment |
| PEX10 | 87.10 | 0 | No comment |
| PEX16 | 99.97 | 0 | No comment |
| PEX2 | 100.00 | 0 | No comment |
| PEX7 | 95.60 | 0 | No comment |
| PHYH | 99.81 | 0 | No comment |
| PIK3R5 | 100.00 | 0 | No comment |
| PLA2G6 | 100.00 | 0 | No comment |
| PLEKHG4 | 100.00 | 0 | No comment |
| PLP1 | 100.00 | 0 | No comment |
| PMM2 | 100.00 | 0 | No comment |
| PMPCA | 100.00 | 0 | No comment |
| PNKD | 99.93 | 0 | No comment |
| PNKP | 99.84 | 0 | No comment |
| PNPLA6 | 99.95 | 0 | No comment |
| POLG | 100.00 | 0 | No comment |
| POLH | 100.00 | 0 | No comment |
| POLR3A | 100.00 | 0 | No comment |
| POLR3B | 100.00 | 0 | No comment |
| PPP2R2B | 100.00 | 0 | No comment |
| PRICKLE1 | 100.00 | 0 | No comment |
| PRKCG | 100.00 | 0 | No comment |
| PRNP | 99.92 | 0 | No comment |
| PRPS1 | 99.91 | 0 | No comment |
| PRRT2 | 100.00 | 0 | No comment |
| PTEN | 99.45 | 0 | No comment |
| PUM1 | 100.00 | 0 | No comment |
| RAB18 | 99.99 | 0 | No comment |
| RAB3A | 100.00 | 0 | No comment |
| RAB3GAP1 | 100.00 | 0 | No comment |
| RARS2 | 100.00 | 0 | No comment |
| RELN | 100.00 | 0 | No comment |
| RNASEH2A | 100.00 | 0 | No comment |
| RNASEH2C | 100.00 | 0 | No comment |
| RNF170 | 100.00 | 0 | No comment |
| RNF216 | 100.00 | 0 | No comment |
| RPGRIP1L | 96.40 | 0 | No comment |
| RRM2B | 100.00 | 0 | No comment |
| RUBCN | 96.60 | 0 | No comment |
| SACS | 99.95 | 0 | No comment |
| SAMD9L | 100.00 | 0 | No comment |
| SAMHD1 | 100.00 | 0 | No comment |
| SAR1B | 100.00 | 0 | No comment |
| SCN8A | 100.00 | 0 | No comment |
| SEC16A | 99.98 | 0 | No comment |
| SEPSECS | 99.57 | 0 | No comment |
| SERAC1 | 100.00 | 0 | No comment |
| SETX | 100.00 | 0 | No comment |
| SIL1 | 99.95 | 0 | No comment |
| SKOR1 | 98.57 | 0 | No comment |
| SLC16A2 | 99.97 | 0 | No comment |
| SLC17A5 | 100.00 | 0 | No comment |
| SLC19A3 | 99.90 | 0 | No comment |
| SLC1A3 | 100.00 | 0 | No comment |
| SLC20A2 | 100.00 | 0 | No comment |
| SLC25A15 | 100.00 | 0 | No comment |
| SLC25A46 | 100.00 | 0 | No comment |
| SLC2A1 | 100.00 | 0 | No comment |
| SLC39A8 | 98.92 | 0 | No comment |
| SLC52A2 | 100.00 | 0 | No comment |
| SLC52A3 | 99.86 | 0 | No comment |
| SLC9A1 | 100.00 | 0 | No comment |
| SLC9A6 | 99.66 | 0 | No comment |
| SMPD1 | 100.00 | 0 | No comment |
| SNX14 | 99.98 | 0 | No comment |
| SPAST | 99.83 | 0 | No comment |
| SPG11 | 100.00 | 0 | No comment |
| SPG7 | 95.78 | 0 | No comment |
| SPR | 99.98 | 0 | No comment |
| SPTBN2 | 99.93 | 0 | No comment |
| SRD5A3 | 98.61 | 0 | No comment |
| STUB1 | 99.69 | 0 | No comment |
| SYNE1 | 100.00 | 0 | No comment |
| SYT14 | 92.28 | 0 | No comment |
| TANGO2 | 99.94 | 0 | No comment |
| TBC1D20 | 95.06 | 0 | No comment |
| TBCC | 100.00 | 0 | No comment |
| TBP | 100.00 | 0 | No comment |
| TCTN1 | 100.00 | 0 | No comment |
| TCTN2 | 100.00 | 0 | No comment |
| TCTN3 | 100.00 | 0 | No comment |
| TDP1 | 100.00 | 0 | No comment |
| TDP2 | 100.00 | 0 | No comment |
| TGM6 | 100.00 | 0 | No comment |
| TK2 | 100.00 | 0 | No comment |
| TMEM138 | 100.00 | 0 | No comment |
| TMEM216 | 99.87 | 0 | No comment |
| TMEM231 | 100.00 | 0 | No comment |
| TMEM237 | 99.85 | 0 | No comment |
| TMEM240 | 96.75 | 0 | No comment |
| TMEM67 | 99.95 | 0 | No comment |
| TRIM32 | 100.00 | 0 | No comment |
| TRPC3 | 99.48 | 0 | No comment |
| TSEN2 | 100.00 | 0 | No comment |
| TSEN34 | 100.00 | 0 | No comment |
| TSEN54 | 91.60 | 0 | No comment |
| TSFM | 100.00 | 0 | No comment |
| TTBK2 | 100.00 | 0 | No comment |
| TTC19 | 100.00 | 0 | No comment |
| TTC8 | 99.73 | 0 | No comment |
| TTPA | 96.80 | 0 | No comment |
| TUBB4A | 100.00 | 0 | No comment |
| TUBG1 | 100.00 | 0 | No comment |
| TWNK | 100.00 | 0 | No comment |
| TYMP | 100.00 | 0 | No comment |
| UBA5 | 100.00 | 0 | No comment |
| VAMP1 | 100.00 | 0 | No comment |
| VLDLR | 96.00 | 0 | No comment |
| VPS13A | 100.00 | 0 | No comment |
| VPS13B | 100.00 | 0 | No comment |
| VPS13D | 100.00 | 0 | No comment |
| VRK1 | 100.00 | 0 | No comment |
| VWA3B | 100.00 | 0 | No comment |
| WASHC5 | 100.00 | 0 | No comment |
| WDPCP | 99.11 | 0 | No comment |
| WDR73 | 100.00 | 0 | No comment |
| WDR81 | 99.63 | 0 | No comment |
| WFS1 | 100.00 | 0 | No comment |
| WWOX | 100.00 | 0 | No comment |
| XPA | 98.10 | 0 | No comment |
| XPC | 100.00 | 0 | No comment |
| XPR1 | 99.91 | 0 | No comment |
| XRCC1 | 99.95 | 0 | No comment |
| ZC4H2 | 100.00 | 0 | No comment |
| ZFYVE26 | 100.00 | 0 | No comment |
| ZNF423 | 100.00 | 0 | No comment |
| ZNF592 | 100.00 | 0 | No comment |