Belgian Genetic Tests database
mitochondrial disease, nuclear based (343 genes) - VUB
| Full name: |
mitochondrial disease, nuclear based (343 genes) - VUB
|
| Description: |
http://www.brightcore.be/mitochondrial-nuclear-panel
|
| Type of panel: | |
| Version number: |
11
|
| Laboratory: | |
| Created: |
16 Jul 2019 - 11:51
|
| Changed: |
28 Sep 2022 - 12:05
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| AARS2 | 100.00 | 0 | No comment |
| ABAT | 100.00 | 0 | No comment |
| ABCB7 | 100.00 | 0 | No comment |
| ACAD9 | 100.00 | 0 | No comment |
| ACO2 | 100.00 | 0 | No comment |
| ADPRS | 99.18 | 0 | No comment |
| AFG2A | 100.00 | 0 | No comment |
| AFG3L2 | 95.05 | 0 | No comment |
| AGK | 100.00 | 0 | No comment |
| AIFM1 | 100.00 | 0 | No comment |
| ALDH1B1 | 100.00 | 0 | No comment |
| ANO10 | 100.00 | 0 | No comment |
| APTX | 100.00 | 0 | No comment |
| ATAD3A | 98.67 | 0 | No comment |
| ATAD3B | 98.52 | 0 | No comment |
| ATAD3C | 97.28 | 0 | No comment |
| ATL1 | 100.00 | 0 | No comment |
| ATL3 | 100.00 | 0 | No comment |
| ATP5F1A | 100.00 | 0 | No comment |
| ATP5F1B | 100.00 | 0 | No comment |
| ATP5F1C | 100.00 | 0 | No comment |
| ATP5F1D | 86.59 | 0 | No comment |
| ATP5F1E | 100.00 | 0 | No comment |
| ATP5IF1 | 100.00 | 0 | No comment |
| ATP5MC1 | 100.00 | 0 | No comment |
| ATP5MC2 | 100.00 | 0 | No comment |
| ATP5MC3 | 100.00 | 0 | No comment |
| ATP5ME | 100.00 | 0 | No comment |
| ATP5MF | 100.00 | 0 | No comment |
| ATP5MG | 100.00 | 0 | No comment |
| ATP5MGL | 100.00 | 0 | No comment |
| ATP5MK | 100.00 | 0 | No comment |
| ATP5PB | 99.84 | 0 | No comment |
| ATP5PD | 99.81 | 0 | No comment |
| ATP5PF | 100.00 | 0 | No comment |
| ATP5PO | 100.00 | 0 | No comment |
| ATPAF1 | 81.57 | 0 | No comment |
| ATPAF2 | 100.00 | 0 | No comment |
| BCS1L | 100.00 | 0 | No comment |
| BOLA1 | 100.00 | 0 | No comment |
| BOLA2 | 100.00 | 0 | No comment |
| BOLA3 | 84.43 | 0 | No comment |
| C19ORF12 | 100.00 | 0 | No comment |
| C1QBP | 97.23 | 0 | No comment |
| CARS2 | 95.42 | 0 | No comment |
| CEP89 | 100.00 | 0 | No comment |
| CHCHD10 | 97.45 | 0 | No comment |
| CHKB | 99.69 | 0 | No comment |
| CLPB | 100.00 | 0 | No comment |
| CLPP | 100.00 | 0 | No comment |
| COA1 | 100.00 | 0 | No comment |
| COA3 | 100.00 | 0 | No comment |
| COA5 | 100.00 | 0 | No comment |
| COA6 | 100.00 | 0 | No comment |
| COA7 | 100.00 | 0 | No comment |
| COA8 | 100.00 | 0 | No comment |
| COASY | 100.00 | 0 | No comment |
| COQ2 | 97.15 | 0 | No comment |
| COQ4 | 100.00 | 0 | No comment |
| COQ6 | 100.00 | 0 | No comment |
| COQ7 | 100.00 | 0 | No comment |
| COQ8A | 100.00 | 0 | No comment |
| COQ8B | 90.08 | 0 | No comment |
| COQ9 | 99.99 | 0 | No comment |
| COX10 | 100.00 | 0 | No comment |
| COX14 | 100.00 | 0 | No comment |
| COX15 | 100.00 | 0 | No comment |
| COX20 | 98.72 | 0 | No comment |
| COX4I1 | 100.00 | 0 | No comment |
| COX4I2 | 100.00 | 0 | No comment |
| COX5A | 97.33 | 0 | No comment |
| COX5B | 100.00 | 0 | No comment |
| COX6A1 | 100.00 | 0 | No comment |
| COX6A2 | 100.00 | 0 | No comment |
| COX6B1 | 100.00 | 0 | No comment |
| COX6B2 | 100.00 | 0 | No comment |
| COX6C | 100.00 | 0 | No comment |
| COX7A1 | 100.00 | 0 | No comment |
| COX7A2 | 100.00 | 0 | No comment |
| COX7A2L | 100.00 | 0 | No comment |
| COX7B | 99.88 | 0 | No comment |
| COX7B2 | 100.00 | 0 | No comment |
| COX7C | 100.00 | 0 | No comment |
| COX8A | 100.00 | 0 | No comment |
| COX8C | 98.71 | 0 | No comment |
| CYC1 | 88.46 | 0 | No comment |
| CYCS | 100.00 | 0 | No comment |
| DARS2 | 100.00 | 0 | No comment |
| DDHD1 | 98.94 | 0 | No comment |
| DES | 100.00 | 0 | No comment |
| DGUOK | 100.00 | 0 | No comment |
| DHTKD1 | 99.98 | 0 | No comment |
| DLAT | 100.00 | 0 | No comment |
| DLD | 100.00 | 0 | No comment |
| DLST | 100.00 | 0 | No comment |
| DMAC2L | 100.00 | 0 | No comment |
| DNA2 | 100.00 | 0 | No comment |
| DNAJC19 | 100.00 | 0 | No comment |
| DNAJC3 | 100.00 | 0 | No comment |
| DNM1L | 100.00 | 0 | No comment |
| EARS2 | 100.00 | 0 | No comment |
| ECHS1 | 99.99 | 0 | No comment |
| ECSIT | 100.00 | 0 | No comment |
| ELAC2 | 99.99 | 0 | No comment |
| ETHE1 | 99.88 | 0 | No comment |
| FARS2 | 100.00 | 0 | No comment |
| FASTKD2 | 100.00 | 0 | No comment |
| FBXL4 | 100.00 | 0 | No comment |
| FDX2 | 100.00 | 0 | No comment |
| FDXR | 100.00 | 0 | No comment |
| FH | 100.00 | 0 | No comment |
| FOXRED1 | 100.00 | 0 | No comment |
| FXN | 89.89 | 0 | No comment |
| GARS1 | 99.53 | 0 | No comment |
| GATB | 100.00 | 0 | No comment |
| GATC | 100.00 | 0 | No comment |
| GATM | 99.26 | 0 | No comment |
| GFER | 97.55 | 0 | No comment |
| GFM1 | 100.00 | 0 | No comment |
| GFM2 | 100.00 | 0 | No comment |
| GLRX5 | 84.06 | 0 | No comment |
| GLUD1 | 99.45 | 0 | No comment |
| GTPBP3 | 100.00 | 0 | No comment |
| HARS2 | 100.00 | 0 | No comment |
| HCCS | 100.00 | 0 | No comment |
| HIBCH | 100.00 | 0 | No comment |
| HLCS | 100.00 | 0 | No comment |
| HSD17B10 | 100.00 | 0 | No comment |
| HSPA9 | 100.00 | 0 | No comment |
| HSPD1 | 99.53 | 0 | No comment |
| HTRA2 | 100.00 | 0 | No comment |
| IARS2 | 100.00 | 0 | No comment |
| IBA57 | 87.89 | 0 | No comment |
| ISCA1 | 99.77 | 0 | No comment |
| ISCA2 | 100.00 | 0 | No comment |
| ISCU | 99.39 | 0 | No comment |
| KARS1 | 100.00 | 0 | No comment |
| LACTB | 91.87 | 0 | No comment |
| LARS2 | 100.00 | 0 | No comment |
| LIAS | 100.00 | 0 | No comment |
| LIPT1 | 100.00 | 0 | No comment |
| LIPT2 | 94.78 | 0 | No comment |
| LONP1 | 99.83 | 0 | No comment |
| LRPPRC | 99.14 | 0 | No comment |
| LYRM4 | 68.80 | 0 | No comment |
| LYRM7 | 100.00 | 0 | No comment |
| MARS2 | 100.00 | 0 | No comment |
| MCUR1 | 79.55 | 0 | No comment |
| MDH2 | 98.91 | 0 | No comment |
| MED12 | 100.00 | 0 | No comment |
| MFF | 100.00 | 0 | No comment |
| MFN2 | 100.00 | 0 | No comment |
| MGME1 | 100.00 | 0 | No comment |
| MICOS13 | 100.00 | 0 | No comment |
| MICU1 | 100.00 | 0 | No comment |
| MIEF2 | 100.00 | 0 | No comment |
| MMUT | 100.00 | 0 | No comment |
| MPC1 | 100.00 | 0 | No comment |
| MPV17 | 100.00 | 0 | No comment |
| MRM2 | 99.91 | 0 | No comment |
| MRM3 | 100.00 | 0 | No comment |
| MRPL12 | 92.58 | 0 | No comment |
| MRPL3 | 100.00 | 0 | No comment |
| MRPL44 | 100.00 | 0 | No comment |
| MRPL57 | 100.00 | 0 | No comment |
| MRPS14 | 100.00 | 0 | No comment |
| MRPS16 | 100.00 | 0 | No comment |
| MRPS2 | 98.34 | 0 | No comment |
| MRPS22 | 100.00 | 0 | No comment |
| MRPS34 | 97.33 | 0 | No comment |
| MRPS7 | 100.00 | 0 | No comment |
| MRRF | 100.00 | 0 | No comment |
| MSTO1 | 100.00 | 0 | No comment |
| MTFMT | 99.11 | 0 | No comment |
| MTO1 | 95.75 | 0 | No comment |
| MTPAP | 100.00 | 0 | No comment |
| MTRFR | 100.00 | 0 | No comment |
| NADK2 | 90.73 | 0 | No comment |
| NARS2 | 100.00 | 0 | No comment |
| NAXE | 99.78 | 0 | No comment |
| NDUFA1 | 100.00 | 0 | No comment |
| NDUFA10 | 95.87 | 0 | No comment |
| NDUFA11 | 98.06 | 0 | No comment |
| NDUFA12 | 100.00 | 0 | No comment |
| NDUFA13 | 100.00 | 0 | No comment |
| NDUFA2 | 100.00 | 0 | No comment |
| NDUFA3 | 100.00 | 0 | No comment |
| NDUFA4 | 99.68 | 0 | No comment |
| NDUFA5 | 87.27 | 0 | No comment |
| NDUFA6 | 100.00 | 0 | No comment |
| NDUFA7 | 100.00 | 0 | No comment |
| NDUFA8 | 100.00 | 0 | No comment |
| NDUFA9 | 100.00 | 0 | No comment |
| NDUFAB1 | 100.00 | 0 | No comment |
| NDUFAF1 | 100.00 | 0 | No comment |
| NDUFAF2 | 100.00 | 0 | No comment |
| NDUFAF3 | 100.00 | 0 | No comment |
| NDUFAF4 | 100.00 | 0 | No comment |
| NDUFAF5 | 100.00 | 0 | No comment |
| NDUFAF6 | 93.73 | 0 | No comment |
| NDUFAF7 | 100.00 | 0 | No comment |
| NDUFB1 | 100.00 | 0 | No comment |
| NDUFB10 | 100.00 | 0 | No comment |
| NDUFB11 | 99.52 | 0 | No comment |
| NDUFB2 | 100.00 | 0 | No comment |
| NDUFB3 | 100.00 | 0 | No comment |
| NDUFB4 | 99.85 | 0 | No comment |
| NDUFB5 | 100.00 | 0 | No comment |
| NDUFB6 | 100.00 | 0 | No comment |
| NDUFB7 | 100.00 | 0 | No comment |
| NDUFB8 | 100.00 | 0 | No comment |
| NDUFB9 | 100.00 | 0 | No comment |
| NDUFC1 | 100.00 | 0 | No comment |
| NDUFC2 | 100.00 | 0 | No comment |
| NDUFS1 | 100.00 | 0 | No comment |
| NDUFS2 | 100.00 | 0 | No comment |
| NDUFS3 | 100.00 | 0 | No comment |
| NDUFS4 | 100.00 | 0 | No comment |
| NDUFS5 | 99.18 | 0 | No comment |
| NDUFS6 | 100.00 | 0 | No comment |
| NDUFS7 | 99.49 | 0 | No comment |
| NDUFS8 | 100.00 | 0 | No comment |
| NDUFV1 | 100.00 | 0 | No comment |
| NDUFV2 | 100.00 | 0 | No comment |
| NDUFV3 | 99.46 | 0 | No comment |
| NFS1 | 93.58 | 0 | No comment |
| NFU1 | 99.75 | 0 | No comment |
| NSUN3 | 100.00 | 0 | No comment |
| NUBPL | 100.00 | 0 | No comment |
| OGDH | 100.00 | 0 | No comment |
| OPA3 | 100.00 | 0 | No comment |
| OXA1L | 100.00 | 0 | No comment |
| PANK2 | 98.60 | 0 | No comment |
| PARS2 | 100.00 | 0 | No comment |
| PDHA1 | 98.17 | 0 | No comment |
| PDHB | 100.00 | 0 | No comment |
| PDHX | 99.87 | 0 | No comment |
| PDK1 | 99.19 | 0 | No comment |
| PDK2 | 100.00 | 0 | No comment |
| PDK3 | 99.76 | 0 | No comment |
| PDK4 | 100.00 | 0 | No comment |
| PDP1 | 100.00 | 0 | No comment |
| PDSS1 | 86.24 | 0 | No comment |
| PDSS2 | 100.00 | 0 | No comment |
| PET100 | 100.00 | 0 | No comment |
| PET117 | 100.00 | 0 | No comment |
| PIGA | 100.00 | 0 | No comment |
| PINK1 | 92.83 | 0 | No comment |
| PISD | 100.00 | 0 | No comment |
| PITRM1 | 100.00 | 0 | No comment |
| PMPCA | 100.00 | 0 | No comment |
| PNPT1 | 100.00 | 0 | No comment |
| PODXL | 100.00 | 0 | No comment |
| POLG | 100.00 | 0 | No comment |
| POLG2 | 100.00 | 0 | No comment |
| POLR3A | 100.00 | 0 | No comment |
| PPA2 | 99.97 | 0 | No comment |
| PTRH2 | 100.00 | 0 | No comment |
| PUS1 | 99.08 | 0 | No comment |
| PYCR1 | 100.00 | 0 | No comment |
| PYCR2 | 100.00 | 0 | No comment |
| QRSL1 | 100.00 | 0 | No comment |
| RARS2 | 100.00 | 0 | No comment |
| REEP1 | 97.37 | 0 | No comment |
| RMND1 | 100.00 | 0 | No comment |
| RNASEH1 | 100.00 | 0 | No comment |
| RRM2B | 100.00 | 0 | No comment |
| SARS2 | 100.00 | 0 | No comment |
| SCO1 | 100.00 | 0 | No comment |
| SCO2 | 100.00 | 0 | No comment |
| SDHA | 98.02 | 0 | No comment |
| SDHAF1 | 96.03 | 0 | No comment |
| SDHB | 100.00 | 0 | No comment |
| SDHD | 80.22 | 0 | No comment |
| SERAC1 | 100.00 | 0 | No comment |
| SFXN4 | 100.00 | 0 | No comment |
| SLC19A2 | 99.50 | 0 | No comment |
| SLC19A3 | 100.00 | 0 | No comment |
| SLC25A1 | 93.77 | 0 | No comment |
| SLC25A12 | 100.00 | 0 | No comment |
| SLC25A13 | 99.94 | 0 | No comment |
| SLC25A19 | 100.00 | 0 | No comment |
| SLC25A22 | 100.00 | 0 | No comment |
| SLC25A24 | 99.82 | 0 | No comment |
| SLC25A3 | 100.00 | 0 | No comment |
| SLC25A32 | 100.00 | 0 | No comment |
| SLC25A4 | 99.09 | 0 | No comment |
| SLC25A46 | 100.00 | 0 | No comment |
| SLC25A5 | 98.36 | 0 | No comment |
| SLC25A6 | 100.00 | 0 | No comment |
| SLC39A8 | 97.00 | 0 | No comment |
| SPART | 100.00 | 0 | No comment |
| SPAST | 100.00 | 0 | No comment |
| SPG7 | 96.56 | 0 | No comment |
| SQSTM1 | 93.68 | 0 | No comment |
| STXBP1 | 100.00 | 0 | No comment |
| SUCLA2 | 100.00 | 0 | No comment |
| SUCLG1 | 95.74 | 0 | No comment |
| SUCLG2 | 99.95 | 0 | No comment |
| SURF1 | 87.74 | 0 | No comment |
| TACO1 | 99.90 | 0 | No comment |
| TANGO2 | 100.00 | 0 | No comment |
| TARS2 | 100.00 | 0 | No comment |
| THG1L | 100.00 | 0 | No comment |
| TIMM44 | 99.93 | 0 | No comment |
| TIMM50 | 100.00 | 0 | No comment |
| TIMM8A | 100.00 | 0 | No comment |
| TIMMDC1 | 100.00 | 0 | No comment |
| TK2 | 95.90 | 0 | No comment |
| TMEM126A | 100.00 | 0 | No comment |
| TMEM126B | 100.00 | 0 | No comment |
| TMEM70 | 100.00 | 0 | No comment |
| TPK1 | 100.00 | 0 | No comment |
| TRIAP1 | 100.00 | 0 | No comment |
| TRIT1 | 100.00 | 0 | No comment |
| TRMT10C | 100.00 | 0 | No comment |
| TRMT5 | 100.00 | 0 | No comment |
| TRMU | 100.00 | 0 | No comment |
| TRNT1 | 100.00 | 0 | No comment |
| TSFM | 93.22 | 0 | No comment |
| TTC19 | 85.12 | 0 | No comment |
| TUFM | 100.00 | 0 | No comment |
| TWNK | 100.00 | 0 | No comment |
| TXN2 | 100.00 | 0 | No comment |
| TYMP | 91.72 | 0 | No comment |
| UBA52 | 100.00 | 0 | No comment |
| UQCC1 | 100.00 | 0 | No comment |
| UQCC2 | 100.00 | 0 | No comment |
| UQCC3 | 100.00 | 0 | No comment |
| UQCR10 | 100.00 | 0 | No comment |
| UQCR11 | 100.00 | 0 | No comment |
| UQCRB | 100.00 | 0 | No comment |
| UQCRC1 | 99.82 | 0 | No comment |
| UQCRC2 | 100.00 | 0 | No comment |
| UQCRFS1 | 98.87 | 0 | No comment |
| UQCRH | 100.00 | 0 | No comment |
| UQCRQ | 100.00 | 0 | No comment |
| VARS2 | 100.00 | 0 | No comment |
| VPS13D | 100.00 | 0 | No comment |
| WARS2 | 100.00 | 0 | No comment |
| WWTR1 | 99.81 | 0 | No comment |
| YARS2 | 100.00 | 0 | No comment |
| YME1L1 | 100.00 | 0 | No comment |