- Analytes
- ELOVL1
ELOVL1
Name: |
ELOVL fatty acid elongase 1
|
Symbol: |
ELOVL1
|
XREF(s): | |
Created: |
19 Sep 2022 - 10:04
|
Changed: |
19 Sep 2022 - 10:05
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Ataxia Spasticity - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AARS1 99.99 1 ABCA2 100.00 1 ABCB7 99.58 1 ABCD1 99.98 1 ABHD12 99.98 1 ACO2 99.99 1 ADAR 99.84 1 ADGRG1 99.90 1 ADPRS 99.94 1 AFG3L2 99.97 1 AGTPBP1 99.68 1 AHI1 99.86 1 AIFM1 99.92 1 AIMP1 99.97 1 ALDH18A1 99.96 1 ALDH5A1 96.19 1 ALG6 93.37 1 ALS2 99.87 1 AMPD2 99.91 1 ANO10 99.93 1 AP4B1 96.92 1 AP4E1 99.94 1 AP4M1 99.98 1 AP4S1 87.89 1 AP5Z1 100.00 1 APOB 99.99 1 APTX 99.92 1 ARG1 99.95 1 ARL13B 99.53 1 ARL6IP1 99.51 1 ARSA 99.99 1 ARSI 100.00 1 ARX 95.36 1 ASPA 99.98 1 ATCAY 100.00 1 ATG5 99.81 1 ATL1 99.95 1 ATM 99.83 1 ATP13A2 99.96 1 ATP1A3 99.98 1 ATP2B3 99.98 1 ATP7B 100.00 1 ATP8A2 100.00 1 AUH 99.95 1 B4GALNT1 99.97 1 BCKDHA 99.97 1 BCKDHB 99.73 1 BCL11B 100.00 1 BCS1L 99.99 1 BICD2 99.99 1 BSCL2 99.99 1 BTD 100.00 1 C19ORF12 99.99 1 CA8 99.71 1 CACNA1A 98.16 1 CACNA1E 99.82 1 CACNA1G 99.95 1 CACNB4 99.20 1 CAMTA1 99.97 1 CAPN1 99.99 1 CC2D2A 99.95 1 CCDC88C 100.00 1 CCT5 99.99 1 CDK16 99.99 1 CEP290 98.10 1 CHP1 99.90 1 CLCN2 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COQ2 99.90 1 COQ4 100.00 1 COQ8A 100.00 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 COX20 99.67 1 CP 99.95 1 CPT1C 99.99 1 CSTB 100.00 1 CTBP1 99.98 1 CWF19L1 99.91 1 CYP27A1 100.00 1 CYP2U1 99.99 1 CYP7B1 99.82 1 DAB1 97.87 1 DARS1 98.85 1 DARS2 98.31 1 DBT 94.51 1 DDHD1 99.93 1 DDHD2 99.97 1 DDX3X 99.01 1 DEGS1 99.99 1 DLAT 99.65 1 DLD 99.89 1 DNAJC19 99.76 1 DNAJC3 99.92 1 DNAJC5 99.99 1 DNMT1 99.13 1 DOCK3 99.96 1 EARS2 99.96 1 EBF3 99.99 1 ECHS1 100.00 1 EEF2 99.95 1 EIF2AK1 99.90 1 ELOVL1 100.00 1 ELOVL4 99.91 1 ELOVL5 99.87 1 EMC1 99.85 1 ENTPD1 99.98 1 EPM2A 99.99 1 ERCC1 99.96 1 ERCC4 99.92 1 ERCC8 99.79 1 ERLIN1 99.98 1 ERLIN2 99.94 1 EXOSC3 100.00 1 FA2H 99.98 1 FARS2 100.00 1 FASTKD2 99.93 1 FAT2 99.99 1 FGF14 99.99 1 FITM2 99.99 1 FLRT1 100.00 1 FLVCR1 99.91 1 FOLR1 100.00 1 FRMD4A 100.00 1 FRMD7 99.97 1 GALC 99.92 1 GAN 99.98 1 GBA2 99.99 1 GBE1 99.73 1 GDAP2 95.02 1 GFAP 99.99 1 GFM2 99.87 1 GJC2 100.00 1 GLB1 100.00 1 GLRX5 100.00 1 GLS 99.78 1 GM2A 100.00 1 GOSR2 98.92 1 GPR143 99.60 1 GRID2 99.97 1 GRIN1 100.00 1 GRM1 100.00 1 GRN 100.00 1 GSX2 100.00 1 HACE1 99.76 1 HEXA 99.99 1 HEXB 99.91 1 HSD17B10 99.98 1 HSD17B4 99.71 1 HSPD1 83.42 1 IBA57 100.00 1 IFIH1 99.84 1 IFRD1 99.67 1 IFT140 100.00 1 INTS8 99.89 1 IRF2BPL 99.21 1 ISCA1 99.79 1 ITM2B 99.85 1 ITPR1 99.98 1 JAM2 91.82 1 KANK1 99.99 1 KCNA1 100.00 1 KCNA2 99.99 1 KCNA4 100.00 1 KCNC3 99.98 1 KCND3 99.98 1 KCNJ10 99.98 1 KCNJ6 100.00 1 KCNMA1 99.89 1 KCNQ2 100.00 1 KCTD7 99.98 1 KIDINS220 99.94 1 KIF1A 99.96 1 KIF1C 99.99 1 KIF5A 99.91 1 KLC2 100.00 1 L1CAM 99.98 1 L2HGDH 99.92 1 LAMA1 99.98 1 LAMB1 99.87 1 LIPT2 99.99 1 LYRM7 99.98 1 LYST 99.87 1 ERCC2 99.99 1 MAN2B1 99.99 1 MARS1 99.97 1 MARS2 100.00 1 MCOLN1 100.00 1 MECP2 99.95 1 MLC1 99.99 1 MMADHC 99.76 1 MME 97.17 1 MPV17 99.98 1 MRE11 99.93 1 MRPS34 100.00 1 MSTO1 76.34 1 MTCL1 100.00 1 MTPAP 99.97 1 MTRFR 99.87 1 MTTP 99.92 1 MYORG 99.99 1 NANS 100.00 1 NDUFA9 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS3 100.00 1 NDUFS7 99.99 1 NEFL 100.00 1 NEU1 99.98 1 NEXMIF 99.99 1 NF2 100.00 1 NHLRC1 100.00 1 NIPA1 99.91 1 NKX6-2 100.00 1 NOL3 100.00 1 NPC1 99.99 1 NPC2 100.00 1 NT5C2 99.96 1 NTNG2 99.98 1 NUP93 99.87 1 NUS1 99.90 1 OCLN 82.91 1 OFD1 99.68 1 MED12 99.95 1 OPA3 100.00 1 OPHN1 99.92 1 OTC 99.42 1 PARS2 99.99 1 PODXL 99.99 1 PCDH12 100.00 1 PCYT2 100.00 1 PDHA1 99.04 1 PDHX 99.64 1 PDYN 100.00 1 PEX10 100.00 1 PEX16 99.94 1 PEX7 99.72 1 PGAP1 99.56 1 PHYH 100.00 1 PIK3R5 99.99 1 PLA2G6 99.98 1 PLAA 99.79 1 PLD3 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMPCA 99.99 1 PMPCB 99.94 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLR3A 99.97 1 POLR3B 99.94 1 PRF1 100.00 1 PRKCG 99.99 1 PRNP 100.00 1 PRPS1 99.95 1 PRRT2 99.97 1 PSAP 99.94 1 PSEN1 100.00 1 PTPN23 100.00 1 PTRH2 99.99 1 PUM1 98.14 1 RAB11B 100.00 1 RAB18 99.76 1 RAB3GAP1 99.73 1 RAB3GAP2 99.69 1 REEP1 99.97 1 REEP2 99.99 1 RETREG1 99.99 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF170 99.90 1 RNF216 99.99 1 RORA 99.97 1 RPGRIP1L 96.35 1 RTN2 99.98 1 RTN4IP1 99.98 1 RUBCN 100.00 1 SACS 99.97 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SARS1 98.53 1 SCN8A 99.77 1 SCYL1 100.00 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHD 82.93 1 SEPSECS 99.78 1 SETX 99.97 1 SIL1 99.95 1 SLC13A5 99.99 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC19A3 99.95 1 SLC1A3 99.98 1 SLC1A4 99.97 1 SLC25A15 100.00 1 SLC25A46 99.88 1 SLC2A1 99.93 1 SLC33A1 99.67 1 SLC44A1 99.90 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC6A8 99.99 1 SLC9A1 99.96 1 SLC9A6 99.42 1 SMPD1 100.00 1 SNAP25 99.89 1 SNX14 99.73 1 SOX10 100.00 1 SPART 99.98 1 SPAST 99.77 1 SPG11 99.89 1 SPG21 99.97 1 SPG7 99.99 1 SPR 99.99 1 SPTAN1 99.96 1 SPTBN2 99.98 1 SQSTM1 100.00 1 SRD5A3 99.94 1 STUB1 99.99 1 SUCLA2 99.96 1 SUOX 100.00 1 SURF1 100.00 1 SVBP 99.04 1 SYNE1 99.95 1 SYT14 99.94 1 TANGO2 99.85 1 TBC1D20 100.00 1 TDP1 99.97 1 TDP2 99.97 1 TECPR2 99.96 1 TENM3 99.99 1 TFG 98.68 1 TGM6 99.99 1 THG1L 99.99 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM240 99.99 1 TMEM67 99.69 1 TMX2 99.99 1 ACD 99.99 1 TRAK1 99.98 1 TRAPPC12 99.96 1 TRAPPC4 100.00 1 TRIT1 99.25 1 TRPC3 99.97 1 TSEN2 99.98 1 TSEN54 100.00 1 TTBK2 99.93 1 TTC19 99.99 1 TTPA 99.88 1 TUBA1A 99.97 1 TUBB4A 100.00 1 TUBG1 99.95 1 TWNK 100.00 1 UBA5 99.95 1 UBAP1 99.51 1 UBTF 99.99 1 UCHL1 99.99 1 UFC1 99.35 1 UFM1 99.25 1 UGP2 99.85 1 USP8 99.67 1 VAMP1 100.00 1 VCP 99.99 1 VLDLR 99.99 1 VPS13B 99.90 1 VPS13D 99.96 1 VPS37A 99.96 1 VRK1 99.98 1 VWA3B 98.82 1 WARS2 97.72 1 WASHC5 99.98 1 WDR45B 100.00 1 WDR48 99.42 1 WDR73 99.92 1 WDR81 100.00 1 WWOX 100.00 1 XRCC1 99.96 1 ZC4H2 99.98 1 ZFR 99.94 1 ZFYVE26 100.00 1 ZFYVE27 99.99 1 -
Ichthyosis and erythroderma (98 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA12 95.00 0 NM_173076.3 ABHD5 95.00 0 NM_016006.6 ADAM17 95.00 0 NM_003183.6 ALDH3A2 95.00 0 NM_000382.3 ALOX12B 95.00 0 NM_001139.3 ALOXE3 95.00 0 NM_021628.3 AP1B1 95.00 0 NM_001127.4 AP1S1 95.00 0 NM_001283.5 ASPRV1 95.00 0 NM_152792.4 ASS1 95.00 0 NM_000050.4 ATP7A 95.00 0 NM_000052.7 BCKDHA 95.00 0 NM_000709.4 BCKDHB 95.00 0 NM_183050.4 BTD 95.00 0 NM_001370658.1 BTK 95.00 0 NM_000061.3 CAPN12 95.00 0 NM_144691.4 CARD14 95.00 0 NM_024110.4 CASP14 95.00 0 NM_012114.3 CAST 95.00 0 NM_001042440.5 CDSN 95.00 0 NM_001264.5 CERS3 95.00 0 NM_178842.5 CHST8 95.00 0 NM_001127896.2 CLDN1 95.00 0 NM_021101.5 CPS1 95.00 0 NM_001875.5 CSTA 95.00 0 NM_005213.4 CTSB 95.00 0 NM_001908.5 CYP4F22 95.00 0 NM_173483.4 DBT 95.00 0 NM_001918.5 DCLRE1C 95.00 0 NM_001033855.3 DLD 95.00 0 NM_000108.5 DSG1 95.00 0 NM_001942.4 EBP 95.00 0 NM_006579.3 ELOVL1 95.00 0 NM_001256399.2 ELOVL4 95.00 0 NM_022726.4 ERCC2 95.00 0 NM_000400.4 ERCC3 95.00 0 NM_000122.2 FLG 95.00 0 NM_002016.2 FLG2 95.00 0 NM_001014342.3 GBA1 95.00 0 NM_001005741.3 GJA1 95.00 0 NM_000165.5 GJB2 95.00 0 NM_004004.6 GJB3 95.00 0 NM_024009.3 GJB4 95.00 0 NM_153212.3 GJB6 95.00 0 NM_006783.5 GTF2E2 95.00 0 NM_002095.6 GTF2H5 95.00 0 NM_207118.3 HLCS 95.00 0 NM_000411.8 IL36RN 95.00 0 NM_012275.3 KDSR 95.00 0 NM_002035.4 KIT 95.00 0 NM_000222.3 KRT1 95.00 0 NM_006121.4 KRT10 95.00 0 NM_000421.5 KRT14 95.00 0 NM_000526.5 KRT16 95.00 0 NM_005557.4 KRT2 95.00 0 NM_000423.3 KRT5 95.00 0 NM_000424.4 KRT6C 95.00 0 NM_173086.5 KRT83 95.00 0 NM_002282.3 KRT9 95.00 0 NM_000226.4 LIPN 95.00 0 NM_001102469.2 LORICRIN 95.00 0 NM_000427.3 MBTPS2 95.00 0 NM_015884.4 MPLKIP 95.00 0 NM_138701.4 MMUT 95.00 0 NM_000255.4 NIPAL4 95.00 0 NM_001099287.2 NSDHL 95.00 0 NM_015922.3 PCCA 95.00 0 NM_000282.4 PCCB 95.00 0 NM_000532.5 PERP 95.00 0 NM_022121.5 PEX7 95.00 0 NM_000288.4 PHYH 95.00 0 NM_006214.4 PIGL 95.00 0 NM_004278.4 PNPLA1 95.00 0 NM_001145717.1 POMP 95.00 0 NM_015932.6 RAG1 95.00 0 NM_000448.3 RAG2 95.00 0 NM_000536.4 RNF113A 95.00 0 NM_006978.3 SDR9C7 95.00 0 NM_148897.3 SERPINB7 95.00 0 NM_003784.4 SERPINB8 95.00 0 NM_198833.2 SGPL1 95.00 0 NM_003901.4 SLC25A13 95.00 0 NM_014251.3 SLC27A4 95.00 0 NM_005094.4 SLC30A2 95.00 0 NM_001004434.3 SLC39A4 95.00 0 NM_130849.4 SNAP29 95.00 0 NM_004782.4 SPINK5 95.00 0 NM_006846.4 SREBF1 95.00 0 NM_004176.5 ST14 95.00 0 NM_021978.4 STS 95.00 0 NM_000351.7 SULT2B1 95.00 0 NM_177973.2 SUMF1 95.00 0 NM_182760.4 TBX1 95.00 0 NM_080647.1 TGM1 95.00 0 NM_000359.3 TGM5 95.00 0 NM_201631.4 TRPM4 95.00 0 NM_017636.4 VIPAS39 95.00 0 NM_022067.4 VPS33B 95.00 0 NM_018668.5 -
Retinal dystrophy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA4 99.30 1 ABCC6 98.57 1 ABHD12 99.98 1 ACBD5 99.97 1 ACO2 99.99 1 ADAM9 99.89 1 ADAMTS18 99.99 1 ADGRA3 99.90 1 ADGRV1 99.80 1 ADIPOR1 99.83 1 AFG3L2 99.97 1 AGBL5 99.98 1 AHI1 99.86 1 AHR 99.79 1 AIPL1 100.00 1 ALMS1 99.90 1 ARHGEF18 99.97 1 ARL2BP 99.89 1 ARL3 99.98 1 ARL6 99.90 1 ARMS2 100.00 1 ARSG 100.00 1 ASRGL1 99.84 1 ATF6 98.19 1 ATXN7 99.98 1 BBIP1 99.99 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BEST1 99.86 1 MFRP 100.00 1 C2 99.99 1 C3 100.00 1 CA4 100.00 1 CABP4 100.00 1 CACNA1F 99.94 1 CACNA2D4 99.99 1 CAPN5 99.88 1 CC2D2A 99.95 1 CCT2 98.46 1 CDH23 99.95 1 CDH3 99.98 1 CDHR1 99.72 1 CEP164 99.99 1 CEP19 99.99 1 CEP250 99.93 1 CEP290 98.10 1 CEP78 99.95 1 CERKL 99.91 1 CFAP410 100.00 1 CFAP418 100.00 1 CFB 99.97 1 CFH 99.12 1 CHM 96.46 1 CIB2 100.00 1 CLCC1 93.17 1 CLN3 99.92 1 CLRN1 99.99 1 CLUAP1 99.95 1 CNGA1 99.60 1 CNGA3 99.95 1 CNGB1 97.53 1 CNGB3 99.96 1 CNNM4 99.93 1 COL11A1 90.72 1 COL2A1 99.87 1 COL9A1 99.91 1 CRB1 99.73 1 CRX 99.96 1 CSPP1 98.31 1 CTNNA1 99.98 1 CWC27 99.67 1 CYP4V2 99.98 1 DHDDS 98.65 1 DHX38 99.97 1 DMD 99.76 1 DRAM2 96.06 1 DTHD1 99.92 1 DYNC2H1 99.66 1 EFEMP1 99.68 1 ELOVL1 100.00 1 ELOVL4 99.91 1 EMC1 99.85 1 ERCC6 99.60 1 ESPN 100.00 1 EXOSC2 100.00 1 EYS 99.86 1 FAM161A 99.77 1 FBLN5 100.00 1 FBN2 99.90 1 FLVCR1 99.91 1 FSCN2 100.00 1 FZD4 100.00 1 GDF6 100.00 1 GNAT1 100.00 1 GNAT2 99.87 1 GNB3 100.00 1 GNPTG 100.00 1 GPR179 99.99 1 GRID2 99.97 1 GRK1 99.99 1 GRM6 100.00 1 GUCA1A 100.00 1 GUCA1B 99.99 1 GUCY2D 100.00 1 HARS1 99.96 1 HGSNAT 99.93 1 HK1 99.97 1 HMCN1 99.44 1 HMX1 100.00 1 HTRA1 100.00 1 IDH3A 99.98 1 IDH3B 100.00 1 IFT140 100.00 1 IFT172 99.98 1 IFT27 100.00 1 IFT43 99.97 1 IFT81 94.64 1 IFT88 98.26 1 IMPDH1 92.77 1 IMPG1 99.93 1 IMPG2 99.97 1 INPP5E 99.85 1 INVS 99.94 1 IQCB1 99.72 1 ITM2B 99.85 1 JAG1 100.00 1 KCNJ13 99.99 1 KCNV2 99.97 1 KIAA1549 99.98 1 KIF11 99.84 1 KIF3B 99.99 1 KIZ 99.98 1 KLHL7 99.95 1 LAMA1 99.98 1 LAMB2 99.99 1 LCA5 99.89 1 LRAT 100.00 1 LRIT3 100.00 1 LRP5 99.95 1 LZTFL1 100.00 1 MAK 99.47 1 MAPKAPK3 99.97 1 MERTK 98.90 1 MFN2 99.98 1 MFSD8 99.70 1 MIR204 100.00 1 MKKS 100.00 1 MKS1 99.92 1 MTRFR 99.87 1 MTTP 99.92 1 MVK 99.97 1 MYO7A 99.96 1 NBAS 99.86 1 NDP 99.98 1 NEK2 95.09 1 NEUROD1 100.00 1 NMNAT1 99.93 1 NPHP1 99.05 1 NPHP3 99.89 1 NPHP4 99.98 1 NR2E3 100.00 1 NR2F1 99.99 1 NRL 100.00 1 NYX 100.00 1 OAT 90.17 1 OFD1 99.68 1 MED12 99.95 1 OPA3 100.00 1 OPN1LW 71.75 1 OPN1MW 30.23 1 OPN1SW 99.97 1 OTX2 100.00 1 PANK2 99.99 1 PAX2 99.99 1 PCARE 100.00 1 PCDH15 99.71 1 PCYT1A 100.00 1 PDE6A 99.98 1 PDE6B 100.00 1 PDE6C 99.91 1 PDE6G 100.00 1 PDE6H 99.97 1 PDZD7 98.09 1 PEX1 98.80 1 PEX2 100.00 1 PEX6 99.99 1 PEX7 99.72 1 PGK1 99.93 1 PHYH 100.00 1 PITPNM3 99.98 1 PLA2G5 99.91 1 PLK4 99.89 1 PNPLA6 99.99 1 POC1B 100.00 1 POC5 99.85 1 POMGNT1 99.69 1 PRCD 100.00 1 PRDM13 99.99 1 PROM1 99.97 1 PRPF3 99.73 1 PRPF31 99.99 1 PRPF4 99.96 1 PRPF6 99.98 1 PRPF8 99.98 1 PRPH2 99.98 1 PRPS1 99.95 1 RAB28 99.97 1 RAX2 100.00 1 RB1 99.84 1 RBP3 99.99 1 RBP4 99.99 1 RCBTB1 99.99 1 RD3 100.00 1 RDH11 99.99 1 RDH12 99.98 1 RDH5 100.00 1 REEP6 100.00 1 RGR 99.79 1 RGS9BP 100.00 1 RHO 100.00 1 RIMS1 99.85 1 RIMS2 99.97 1 RLBP1 99.99 1 ROM1 100.00 1 MAPRE2 99.98 1 RP1L1 100.00 1 RP2 99.58 1 RP9 99.83 1 RPE65 98.99 1 RPGR 94.45 1 RPGRIP1 99.95 1 RPGRIP1L 96.35 1 RS1 99.92 1 RTN4IP1 99.98 1 SAG 99.98 1 SAMD11 100.00 1 SAMD7 99.99 1 SCAPER 99.75 1 SCLT1 95.17 1 SDCCAG8 100.00 1 SEMA4A 99.81 1 SF3B2 99.98 1 SLC24A1 99.92 1 SLC25A46 99.88 1 SLC6A6 99.98 1 SLC7A14 99.99 1 SNRNP200 99.60 1 SPATA7 99.80 1 GPKOW 100.00 1 TEAD1 99.97 1 TIMM8A 100.00 1 TIMP3 100.00 1 TLR3 99.99 1 TLR4 99.99 1 TMEM126A 99.88 1 TMEM216 99.98 1 TMEM237 99.30 1 TOPORS 99.99 1 TREX1 100.00 1 TRIM32 100.00 1 TRNT1 99.97 1 TRPM1 99.96 1 TSPAN12 99.89 1 TTC8 99.67 1 TTLL5 99.95 1 TTPA 99.88 1 TUB 100.00 1 TUBGCP4 99.80 1 TUBGCP6 100.00 1 TULP1 99.99 1 UNC119 100.00 1 USH1C 99.99 1 USH1G 100.00 1 USH2A 99.88 1 VCAN 99.99 1 WDPCP 99.87 1 WDR19 99.80 1 WFS1 99.99 1 WHRN 99.96 1 ZNF408 99.99 1 ZNF423 98.94 1 ZNF513 99.97 1