Belgian Genetic Tests database- Analytes
- ATP5F1E
ATP5F1E
| Name: |
ATP synthase F1 subunit epsilon
|
| Symbol: |
ATP5F1E
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
22 Jun 2023 - 16:14
|
-
Hypertrophic cardiomyopathy (75 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTC1 100.00 1 NM_005159.5 ACTN2 100.00 1 NM_001103.3 ALPK3 100.00 1 NM_020778.5 CSRP3 100.00 1 NM_003476.5 GLA 100.00 1 NM_000169.3 JPH2 100.00 1 NM_020433.5 LAMP2 100.00 1 NM_002294.3 LMNA 100.00 1 NM_170707.4 MYBPC3 100.00 1 NM_000256.3 MYH6 100.00 1 NM_002471.3 MYH7 100.00 1 NM_000257.4 MYL2 100.00 1 NM_000432.4 MYL3 100.00 1 NM_000258.3 PLN 100.00 1 NM_002667.5 PRKAG2 100.00 1 NM_016203.4 TNNC1 100.00 1 NM_003280.3 TNNI3 100.00 1 NM_000363.5 TNNT2 100.00 1 NM_001276345.2 TPM1 100.00 1 NM_001018005.2 TTR 100.00 1 NM_000371.4 ACADVL 100.00 1 NM_000018.4 ACTA1 100.00 1 NM_001100.4 AGL 100.00 1 NM_000642.3 ANKRD1 100.00 1 NM_014391.2 ATAD3A 100.00 1 NM_001170535.3 ATP5F1E 100.00 1 NM_006886.4 BRAF 100.00 1 NM_001354609.2 CACNA1C 100.00 1 NM_000719.7 CALR3 100.00 1 NM_145046.5 CASQ2 100.00 1 NM_001232.3 CAV3 100.00 1 NM_033337.3 COA5 100.00 1 NM_001008215.3 CRYAB 100.00 1 NM_001289808.2 DES 100.00 1 NM_001927.4 FHL1 100.00 1 NM_001159699.2 FHOD3 100.00 1 NM_001281740.3 FLNC 100.00 1 NM_001458.4 FOXRED1 100.00 1 NM_017547.4 FXN 100.00 1 NM_000144.5 GAA 100.00 1 NM_000152.5 GLB1 100.00 1 NM_000404.4 GUSB 100.00 1 NM_000181.4 GYG1 100.00 1 NM_004130.4 HRAS 100.00 1 NM_005343.4 KCNQ1 100.00 1 NM_000218.3 KLF10 100.00 1 NM_005655.4 LDB3 100.00 1 NM_001171610.2 LZTR1 100.00 1 NM_006767.4 MAP2K1 100.00 1 NM_002755.4 MAP2K2 100.00 1 NM_030662.4 MIB1 100.00 1 NM_020774.3 MRPL3 100.00 1 NM_007208.4 MT-TI 100.00 1 MT-TL1 100.00 1 MYLK2 100.00 1 NM_033118.4 MYO6 100.00 1 NM_004999.4 MYOM1 100.00 1 NM_003803.4 MYOZ2 100.00 1 NM_016599.5 MYPN 100.00 1 NM_032578.3 NEXN 100.00 1 NM_144573.3 NRAS 100.00 1 NM_002524.5 PDLIM3 100.00 1 NM_014476.6 PTPN11 100.00 1 NM_002834.5 RAF1 100.00 1 NM_001354689.3 RYR2 100.00 1 NM_001035.3 SCO2 100.00 1 NM_005138.3 SLC25A3 100.00 1 NM_002635.4 SLC25A4 100.00 1 NM_001151.4 SOS1 100.00 1 NM_005633.3 TCAP 100.00 1 NM_003673.4 TMEM70 100.00 1 NM_017866.6 TRIM63 100.00 1 NM_032588.3 TSFM 100.00 1 NM_005726.6 TTN 100.00 1 NM_001267550.2 VCL 100.00 1 NM_014000.3 -
cardiopathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 99.92 1 ACADVL 100.00 1 ACTA2 99.99 1 ACTC1 98.57 1 ACTN2 99.99 1 AGL 97.67 1 AKAP10 99.85 1 AKAP9 99.27 1 ALG10 100.00 1 ANK2 99.98 1 ANKRD1 99.57 1 ATP5F1E 100.00 1 BAG3 100.00 1 BRAF 99.78 1 CACNA1C 100.00 1 CACNA2D1 97.12 1 CACNB2 99.93 1 CALM1 99.86 1 CALM2 99.62 1 CALR3 99.91 1 CASQ2 94.39 1 CAV3 100.00 1 CBL 99.95 1 CFC1 21.93 1 CITED2 100.00 1 COA5 98.65 1 CRELD1 99.99 1 CRYAB 100.00 1 CSRP3 100.00 1 CTF1 100.00 1 CTNNA1 99.98 1 CTNNA3 99.96 1 DCHS1 100.00 1 DES 100.00 1 DMD 99.76 1 DMPK 99.93 1 DNM1L 99.40 1 DOLK 100.00 1 DPP6 99.99 1 DSC3 99.73 1 DSG2 99.96 1 DSP 100.00 1 DTNA 100.00 1 ELN 99.86 1 EMD 99.93 1 EYA4 99.96 1 FBN1 99.85 1 FBXO32 99.99 1 CFH 99.97 1 FHL2 100.00 1 FKRP 100.00 1 FKTN 99.94 1 FLNC 99.99 1 FOXRED1 100.00 1 FXN 99.96 1 GAA 100.00 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD1 99.79 1 GDF1 100.00 1 GJA1 100.00 1 GJA5 100.00 1 GLA 99.90 1 GLB1 100.00 1 GPD1L 99.97 1 GUSB 95.07 1 HAND1 99.99 1 HCN4 100.00 1 HFE 100.00 1 HRAS 100.00 1 ILK 100.00 1 JAG1 100.00 1 JPH2 99.99 1 JUP 99.94 1 KCNA5 100.00 1 KCND3 99.98 1 KCNE1 87.07 1 KCNE2 99.99 1 KCNE3 100.00 1 KCNE5 99.97 1 KCNH2 99.99 1 KCNJ2 100.00 1 KCNJ5 99.99 1 KCNJ8 100.00 1 KCNQ1 100.00 1 KRAS 99.13 1 LAMA4 99.93 1 LAMP2 98.95 1 LDB3 99.91 1 LMNA 99.96 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MED13L 99.99 1 MIB1 99.91 1 MRPL3 99.94 1 MYBPC3 99.98 1 MYH6 100.00 1 MYH7 99.99 1 MYL2 99.99 1 MYL3 99.99 1 MYLK2 100.00 1 MYOM1 99.98 1 MYOZ1 99.93 1 MYOZ2 99.99 1 MYPN 99.88 1 NEBL 99.86 1 NEXN 97.73 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NOS1AP 99.91 1 NPPA 100.00 1 NRAS 99.66 1 PDLIM3 99.94 1 PKP2 94.27 1 PLN 99.97 1 PRKAG2 99.96 1 PSEN1 100.00 1 PSEN2 99.97 1 PTPN11 99.98 1 RAF1 99.97 1 RANGRF 100.00 1 RBM20 99.99 1 RYR2 99.94 1 SCN1B 99.98 1 SCN2B 100.00 1 SCN3B 100.00 1 SCN4B 100.00 1 SCN5A 100.00 1 SCO2 100.00 1 SDHA 99.98 1 SGCD 100.00 1 SHOC2 99.96 1 SLC25A3 99.79 1 SLMAP 99.55 1 SMAD3 99.99 1 SNTA1 99.99 1 SOD2 99.98 1 SOS1 99.68 1 SPRED1 99.99 1 SYNE1 99.95 1 SYNE2 99.95 1 TAFAZZIN 99.98 1 TBX1 99.95 1 TBX20 99.99 1 TCAP 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TLL1 99.94 1 TMEM43 99.96 1 TMEM70 99.99 1 TMPO 99.81 1 TNNI3 100.00 1 TNNT2 99.87 1 TPM1 99.92 1 TRDN 99.80 1 TRIM63 99.96 1 TRPM4 99.99 1 TSFM 100.00 1 TTN 99.15 1 TTR 100.00 1 TXNRD2 99.97 1 VCL 99.76 1 XK 99.98 1 ZFPM2 100.00 1 -
mitochondrial disease, nuclear based (343 genes) - VUB
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 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 ATP5MK 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 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 MTRFR 100.00 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 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 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 MED12 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 PODXL 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 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 AFG2A 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 WWTR1 99.81 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 YARS2 100.00 0 No comment YME1L1 100.00 0 No comment