Genes in panel
- AAAS 0
- AARS2 0
- ABAT 0
- ABCA12 0
- ABCA3 0
- ABCB11 0
- ABCB4 0
- ABCB7 0
- ABCC8 0
- ABCD1 0
- ABHD5 0
- ACAD9 0
- ACADM 1
- ACADVL 0
- ACAT1 0
- ACE 0
- ACO2 0
- ACOX1 0
- ACTA1 0
- ADA 0
- ADA2 0
- ADAMTS13 0
- ADAMTS2 0
- ADAMTSL2 0
- ADAR 0
- ADAT3 0
- ADGRG1 0
- ADGRV1 0
- ADSL 0
- AGA 0
- AGBL5 0
- AGK 0
- AGL 0
- AGPS 0
- AGRN 0
- AGT 0
- AGXT 0
- AHI1 0
- AIFM1 0
- AIMP1 0
- AIPL1 0
- AK2 0
- AKR1D1 0
- ALAD 0
- ALDH18A1 0
- ALDH1A3 0
- ALDH3A2 0
- ALDH5A1 0
- ALDH7A1 0
- ALDOB 0
- ALG1 0
- ALG11 0
- ALG12 0
- ALG2 1
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 0
- ALMS1 0
- ALOX12B 0
- ALOXE3 0
- ALPL 0
- ALS2 0
- AMPD2 0
- AMT 0
- ANKS6 0
- ANTXR1 0
- ANTXR2 0
- AP1S2 0
- AP3B2 0
- AP4B1 0
- AP4M1 0
- AP4S1 0
- APOPT1 1
- APTX 0
- AQP2 0
- ARFGEF2 0
- ARG1 0
- ARHGEF9 0
- ARL13B 0
- ARL6 0
- ARMC4 0
- ARPC1B 0
- ARSA 0
- ARSB 0
- ARV1 0
- ARX 0
- ASAH1 0
- ASCC1 0
- ASL 0
- ASNS 0
- ASPA 0
- ASPM 0
- ASS1 0
- ATAD1 0
- ATCAY 0
- ATF6 0
- ATM 0
- ATOH7 0
- ATP13A2 0
- ATP6AP1 0
- ATP6V0A2 0
- ATP6V0A4 0
- ATP6V1B1 0
- ATP7A 0
- ATP7B 0
- ATP8A2 0
- ATP8B1 0
- ATR 0
- ATRX 0
- AUH 0
- B3GALNT2 0
- B3GALT6 0
- B3GAT3 0
- B3GLCT 0
- B4GALNT1 0
- B4GALT7 0
- BBS1 0
- BBS10 0
- BBS12 0
- BBS2 0
- BBS4 0
- BBS5 0
- BBS7 0
- BBS9 0
- BCKDHA 0
- BCKDHB 0
- BCKDK 0
- BCS1L 0
- BGN 0
- BIN1 0
- BLM 0
- BMPER 0
- BMPR1B 0
- BOLA3 0
- BRAT1 0
- BRF1 0
- BRWD3 0
- BSCL2 0
- BSND 0
- BTK 0
- BUB1B 0
- C12orf57 0
- C12orf65 0
- C19orf12 0
- C1QA 0
- C1QB 0
- C1QC 0
- C21orf2 1
- C2CD3 0
- C3 0
- C5 0
- C5orf42 1
- C6 0
- C7 0
- C8B 0
- C8orf37 0
- CA2 0
- CABP4 0
- CANT1 0
- CAPN3 0
- CARD11 0
- CARD9 0
- CARS2 0
- CASK 0
- CASQ2 0
- CASR 0
- CAVIN1 0
- CC2D1A 0
- CC2D2A 0
- CCBE1 0
- CCDC103 0
- CCDC114 0
- CCDC115 0
- CCDC39 0
- CCDC40 0
- CCDC8 0
- CCDC88C 0
- CCNO 0
- CD27 0
- CD3D 0
- CD40 0
- CD40LG 0
- CD55 0
- CDC45 0
- CDH11 0
- CDH23 0
- CDH3 0
- CDK10 0
- CDK5RAP2 0
- CDT1 0
- CENPJ 0
- CEP120 0
- CEP152 0
- CEP290 0
- CEP41 0
- CEP78 0
- CERS3 0
- CFD 0
- CFH 0
- CFI 0
- CFL2 0
- CFP 0
- CFTR 0
- CHAT 0
- CHKB 0
- CHM 0
- CHRNA1 0
- CHRND 0
- CHRNE 0
- CHRNG 0
- CHST14 0
- CHST3 0
- CHSY1 0
- CIITA 0
- CISD2 0
- CIT 0
- CKAP2L 0
- CLCF1 0
- CLCN2 0
- CLCN4 1
- CLCN5 0
- CLCN7 0
- CLCNKB 0
- CLDN1 0
- CLDN10 0
- CLDN19 0
- CLMP 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLP1 0
- CLPB 0
- CLPP 0
- CLRN1 0
- CNGA3 0
- CNGB3 0
- CNNM4 0
- CNTNAP1 0
- CNTNAP2 0
- COG6 0
- COG7 0
- COL11A1 0
- COL11A2 0
- COL17A1 0
- COL18A1 0
- COL27A1 0
- COL4A3 0
- COL4A4 0
- COL4A5 1
- COL6A1 0
- COL6A2 0
- COL6A3 0
- COL7A1 0
- COLEC11 0
- COLQ 0
- COQ2 0
- COQ4 0
- COQ6 0
- COQ8A 0
- COQ8B 0
- COX10 0
- COX15 0
- COX20 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CRB1 0
- CRB2 0
- CRLF1 0
- CRTAP 0
- CSPP1 0
- CSTB 1
- CTC1 0
- CTNS 0
- CTPS1 0
- CTSA 0
- CTSC 0
- CTSD 0
- CTSF 0
- CTSK 0
- CUL4B 0
- CUL7 0
- CWC27 0
- CYB5R3 0
- CYBA 0
- CYBB 0
- CYP11A1 0
- CYP11B2 0
- CYP17A1 0
- CYP1B1 0
- CYP27A1 0
- CYP2U1 0
- CYP4F22 0
- CYP7B1 0
- D2HGDH 0
- DARS 1
- DARS2 0
- DBT 0
- DCAF17 0
- DCDC2 0
- DCHS1 0
- DCLRE1C 0
- DCX 0
- DDC 0
- DDHD2 0
- DDR2 0
- DDX11 0
- DDX59 0
- DENND5A 0
- DGAT1 0
- DGKE 0
- DGUOK 0
- DHCR24 0
- DHCR7 0
- DHDDS 0
- DHODH 0
- DIS3L2 0
- DKC1 0
- DLD 0
- DLG3 0
- DLL3 0
- DMD 0
- DNAAF1 0
- DNAAF3 0
- DNAAF4 0
- DNAAF5 0
- DNAH11 0
- DNAH5 0
- DNAI1 0
- DNAI2 0
- DNAJC12 0
- DNAJC19 0
- DNAJC21 0
- DNAJC6 0
- DNMT3B 0
- DOCK2 0
- DOCK6 0
- DOCK8 0
- DOK7 0
- DOLK 0
- DONSON 0
- DPAGT1 1
- DPH1 0
- DSP 0
- DSTYK 1
- DYM 0
- DYNC2H1 0
- DYNC2LI1 0
- DYSF 0
- EARS2 0
- ECEL1 0
- ECHS1 0
- EDA 1
- EDAR 0
- EFEMP2 0
- EFNB1 0
- EIF2AK3 0
- EIF2AK4 0
- EIF2B1 0
- EIF2B2 0
- EIF2B3 0
- EIF2B4 0
- EIF2B5 0
- EIF2S3 0
- ELAC2 0
- ELP1 0
- ELP2 0
- EMD 0
- EMG1 1
- EML1 0
- ENPP1 0
- EOGT 0
- EPCAM 0
- EPG5 0
- EPM2A 0
- ERCC2 0
- ERCC4 0
- ERCC5 0
- ERCC6 0
- ERCC6L2 0
- ERCC8 0
- ESCO2 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EVC 0
- EVC2 0
- EXOSC3 0
- EXOSC8 0
- EXTL3 0
- F2 0
- F5 0
- F7 0
- F8 0
- F9 0
- FA2H 0
- FAH 0
- FAM126A 0
- FAM20C 0
- FANCA 0
- FANCB 0
- FANCC 0
- FANCD2 0
- FANCE 0
- FANCF 0
- FANCG 0
- FANCI 0
- FANCL 0
- FARS2 0
- FAT4 0
- FBLN5 0
- FBP1 0
- FBXL4 0
- FBXO7 0
- FERMT1 0
- FERMT3 0
- FGA 0
- FGB 0
- FGD4 0
- FGG 0
- FH 0
- FHL1 0
- FIG4 0
- FKBP10 0
- FKBP14 0
- FKRP 0
- FKTN 0
- FLAD1 0
- FLNA 0
- FLNB 0
- FLVCR1 0
- FLVCR2 0
- FMR1 0
- FOLR1 0
- FOXE3 0
- FOXN1 0
- FOXP3 0
- FOXRED1 0
- FRAS1 0
- FREM1 0
- FREM2 0
- FRRS1L 0
- FTCD 1
- FTO 0
- FTSJ1 0
- FUCA1 0
- FYCO1 0
- G6PC 0
- G6PC3 0
- GAA 0
- GALC 0
- GALNS 0
- GALT 2
- GAMT 0
- GAN 0
- GAS8 0
- GATM 0
- GBA 0
- GBA2 0
- GBE1 0
- GCDH 0
- GCH1 0
- GDAP1 0
- GDF1 0
- GDF5 0
- GDI1 0
- GFM1 0
- GFPT1 0
- GHR 0
- GJA1 0
- GJC2 0
- GK 1
- GLA 0
- GLB1 0
- GLDC 0
- GLDN 0
- GLE1 0
- GLIS3 0
- GLYCTK 0
- GM2A 0
- GMPPA 0
- GMPPB 0
- GNAT2 0
- GNB5 0
- GNE 0
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GORAB 0
- GOSR2 0
- GPAA1 0
- GPC3 0
- GPC6 0
- GPHN 0
- GPR143 0
- GPR179 0
- GPSM2 0
- GPT2 0
- GRM1 0
- GSS 0
- GTF2H5 0
- GTPBP3 0
- GUCY1A3 0
- GUCY2C 0
- GUCY2D 0
- GUSB 0
- GYS2 0
- HACE1 0
- HADH 0
- HADHA 0
- HADHB 0
- HAMP 0
- HAX1 0
- HBB 0
- HCFC1 0
- HEPACAM 0
- HERC2 0
- HES7 0
- HESX1 0
- HEXA 0
- HEXB 0
- HFE2 1
- HGSNAT 0
- HIBCH 0
- HINT1 0
- HK1 1
- HLCS 0
- HMGCL 0
- HMGCS2 0
- HOXA1 0
- HPD 1
- HPGD 0
- HPRT1 0
- HPS1 0
- HPS3 0
- HPS4 0
- HPS5 0
- HPS6 0
- HPSE2 0
- HSD17B10 0
- HSD17B4 0
- HSD3B2 0
- HSD3B7 0
- HSPD1 0
- HSPG2 0
- HTRA2 0
- HUWE1 0
- HYDIN 0
- HYLS1 0
- IARS 0
- IARS2 0
- IBA57 0
- ICOS 0
- IDS 0
- IDUA 0
- IER3IP1 0
- IFNGR1 0
- IFNGR2 0
- IFT122 0
- IFT140 0
- IFT172 0
- IFT80 0
- IGF1R 0
- IGFBP7 1
- IGHM 0
- IGHMBP2 0
- IKBKB 0
- IKBKG 0
- IL10RA 0
- IL10RB 1
- IL11RA 0
- IL12RB1 0
- IL17RA 0
- IL1RAPL1 0
- IL1RN 0
- IL2RG 0
- IL7R 0
- INPP5E 0
- INPP5K 0
- INPPL1 0
- INSR 0
- INVS 0
- IQCB1 0
- IQSEC2 0
- ISCA2 0
- ISPD 1
- ITCH 0
- ITGA6 0
- ITGB2 0
- ITGB4 0
- ITK 0
- ITPR1 0
- IVD 0
- JAGN1 0
- JAK3 0
- JAM3 0
- JUP 0
- KATNB1 0
- KCNJ1 0
- KCNJ10 0
- KCNJ11 0
- KCNQ1 0
- KCNV2 0
- KCTD7 0
- KDM5C 0
- KIAA0586 0
- KIAA1109 0
- KIF14 0
- KIF1A 0
- KIF1BP 0
- KIF1C 0
- KIF7 0
- KLHL40 0
- KLHL41 0
- KLHL7 0
- KNL1 0
- KPTN 0
- KRT10 0
- KRT14 0
- KRT5 0
- KRT85 0
- KY 0
- L1CAM 0
- L2HGDH 0
- LAMA1 0
- LAMA2 0
- LAMA3 0
- LAMB1 0
- LAMB2 0
- LAMB3 0
- LAMC2 0
- LAMC3 0
- LARGE1 0
- LARP7 0
- LARS 1
- LARS2 0
- LAT 1
- LBR 0
- LCA5 0
- LCAT 0
- LDHA 0
- LDHB 1
- LDLR 0
- LDLRAP1 0
- LEP 0
- LGI4 0
- LHX3 0
- LIAS 0
- LIFR 0
- LIG4 1
- LINS1 0
- LIPA 0
- LIPC 0
- LIPT1 0
- LMAN1 0
- LMBR1 0
- LMBRD1 0
- LMNA 0
- LMOD3 0
- LONP1 0
- LPIN1 0
- LPIN2 0
- LPL 0
- LRAT 0
- LRBA 0
- LRIG2 0
- LRMDA 0
- LRP2 0
- LRP4 0
- LRP5 0
- LRPPRC 0
- LRRC6 0
- LRSAM1 1
- LTBP3 1
- LTBP4 0
- LYRM7 0
- LYST 0
- LZTFL1 0
- MALT1 0
- MAN1B1 0
- MAN2B1 0
- MANBA 0
- MAOA 0
- MAPKBP1 0
- MARS 1
- MARS2 0
- MASP1 0
- MBOAT7 0
- MBTPS2 0
- MC2R 0
- MCFD2 0
- MCM4 1
- MCOLN1 0
- MCPH1 0
- MECP2 0
- MED12 0
- MED17 0
- MED23 0
- MED25 0
- MEGF10 0
- MEGF8 0
- MERTK 0
- MESP2 0
- METTL23 0
- MFN2 0
- MFSD2A 0
- MFSD8 0
- MGAT2 0
- MGME1 0
- MGP 0
- MICU1 0
- MID1 0
- MKKS 0
- MKS1 0
- MLC1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MMP2 0
- MMP21 0
- MOCS1 0
- MOCS2 0
- MPDZ 0
- MPI 0
- MPL 0
- MPLKIP 0
- MPV17 0
- MPZ 0
- MRAP 0
- MRE11 0
- MSTO1 1
- MTFMT 0
- MTHFD1 0
- MTHFR 0
- MTM1 0
- MTMR2 0
- MTO1 0
- MTR 0
- MTRR 0
- MTTP 0
- MUSK 0
- MUT 1
- MVK 0
- MYD88 0
- MYMK 0
- MYO5B 0
- MYO7A 0
- NAA10 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NALCN 0
- NANS 0
- NARS2 0
- NAXE 0
- NBAS 0
- NBN 0
- NCF1 0
- NCF2 0
- NDE1 0
- NDP 0
- NDRG1 0
- NDUFA1 0
- NDUFA10 0
- NDUFA11 1
- NDUFAF2 0
- NDUFAF5 0
- NDUFAF6 0
- NDUFS1 0
- NDUFS2 0
- NDUFS4 0
- NDUFS6 0
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NDUFV2 0
- NEB 0
- NECTIN1 0
- NEK1 0
- NEK8 0
- NEU1 0
- NEXMIF 1
- NFU1 0
- NGF 0
- NGLY1 0
- NHEJ1 0
- NHLRC1 0
- NHS 1
- NIPAL4 0
- NKX3-2 0
- NKX6-2 0
- NLGN4X 0
- NMNAT1 0
- NNT 0
- NPC1 0
- NPC2 0
- NPHP1 0
- NPHP3 0
- NPHP4 0
- NPHS1 0
- NPHS2 0
- NPR2 0
- NR0B1 0
- NSDHL 0
- NSUN2 0
- NT5C2 0
- NTRK1 0
- NUBPL 0
- NUP107 0
- NUP62 1
- NUP93 0
- NYX 1
- OBSL1 0
- OCA2 0
- OCLN 0
- OCRL 0
- OFD1 0
- OPA1 0
- OPA3 0
- OPHN1 0
- ORAI1 0
- ORC1 0
- ORC6 0
- OSGEP 0
- OSTM1 0
- OTC 0
- OTUD6B 0
- P3H1 0
- PAH 0
- PAK3 0
- PANK2 0
- PAPSS2 0
- PC 0
- PCCA 0
- PCCB 0
- PCDH12 0
- PCDH15 0
- PCNT 0
- PCSK1 0
- PCYT1A 0
- PDE6C 0
- PDHA1 0
- PDHB 0
- PDP1 0
- PEPD 0
- PET100 0
- PEX1 0
- PEX10 0
- PEX11B 0
- PEX12 0
- PEX13 0
- PEX16 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PGAP1 0
- PGAP2 0
- PGAP3 0
- PGK1 0
- PGM1 0
- PGM3 0
- PHF6 0
- PHF8 0
- PHGDH 0
- PHYH 0
- PIEZO2 0
- PIGA 0
- PIGG 0
- PIGL 0
- PIGN 0
- PIGO 0
- PIGT 0
- PIGV 0
- PIH1D3 1
- PKHD1 0
- PKLR 0
- PLA2G6 0
- PLAA 0
- PLCE1 0
- PLEC 0
- PLG 0
- PLOD1 0
- PLOD2 0
- PLP1 0
- PLPBP 0
- PMM2 0
- PMPCA 0
- PNKP 0
- PNP 0
- PNPLA6 0
- PNPO 0
- POC1A 0
- POLG 0
- POLR1C 0
- POLR3A 0
- POLR3B 0
- POMC 0
- POMGNT1 0
- POMGNT2 0
- POMK 0
- POMP 0
- POMT1 0
- POMT2 0
- POP1 0
- POR 0
- POU1F1 0
- PPA2 0
- PPIB 1
- PPT1 0
- PQBP1 0
- PRDM12 0
- PRDM5 0
- PRF1 0
- PRG4 0
- PRICKLE1 0
- PRKRA 1
- PROC 0
- PROP1 0
- PROS1 0
- PRPS1 0
- PRUNE1 0
- PRX 0
- PSAP 0
- PSAT1 0
- PSMB8 0
- PSPH 0
- PTH1R 0
- PTS 0
- PUS1 0
- PXDN 0
- PYCR1 0
- PYCR2 0
- PYROXD1 0
- QARS 1
- QDPR 0
- RAB18 0
- RAB23 0
- RAB27A 0
- RAB33B 0
- RAB39B 0
- RAB3GAP1 0
- RAB3GAP2 0
- RAD50 0
- RAG1 0
- RAG2 0
- RAPSN 0
- RARB 0
- RARS 1
- RARS2 0
- RAX 0
- RBBP8 0
- RBCK1 0
- RBM10 0
- RCBTB1 0
- RD3 0
- RDH12 0
- RECQL4 0
- REEP6 0
- REN 0
- RETREG1 0
- RFT1 0
- RFX6 0
- RFXANK 0
- RFXAP 0
- RIN2 0
- RIPK4 0
- RLIM 0
- RMND1 0
- RMRP 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNASET2 0
- RNU4ATAC 0
- ROBO3 0
- ROGDI 0
- ROR2 0
- RORC 0
- RP2 0
- RPE65 0
- RPGR 0
- RPGRIP1 0
- RPGRIP1L 0
- RPS6KA3 0
- RRM2B 0
- RSPH1 0
- RSPH4A 0
- RSPH9 0
- RTEL1 0
- RTN4IP1 0
- RTTN 0
- RYR1 0
- SACS 0
- SAMD9 1
- SAMHD1 0
- SAR1B 0
- SARS2 0
- SBDS 0
- SBF2 0
- SC5D 0
- SCARB2 0
- SCARF2 0
- SCN9A 0
- SCNN1A 0
- SCNN1B 0
- SCO2 0
- SCYL1 0
- SDCCAG8 0
- SDHAF1 0
- SEC23A 1
- SEC23B 0
- SELENON 0
- SEMA4A 1
- SEPSECS 0
- SERAC1 0
- SERPINA1 1
- SERPINF1 0
- SERPINH1 0
- SETX 0
- SFTPB 0
- SGCA 0
- SGCB 0
- SGCD 0
- SGCG 0
- SGO1 2
- SGPL1 0
- SGSH 0
- SH2D1A 0
- SH3PXD2B 0
- SH3TC2 0
- SHOX 0
- SIL1 0
- SKIV2L 0
- SLC12A1 0
- SLC12A5 0
- SLC12A6 0
- SLC13A5 0
- SLC16A1 0
- SLC16A2 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC1A4 0
- SLC22A5 0
- SLC24A5 0
- SLC25A1 0
- SLC25A13 0
- SLC25A15 0
- SLC25A19 0
- SLC25A22 0
- SLC25A38 0
- SLC25A46 0
- SLC26A2 0
- SLC26A3 0
- SLC29A3 0
- SLC2A10 0
- SLC2A2 0
- SLC30A10 0
- SLC33A1 0
- SLC35A3 1
- SLC35D1 0
- SLC37A4 0
- SLC38A8 0
- SLC39A14 0
- SLC39A4 0
- SLC39A8 0
- SLC45A2 0
- SLC46A1 0
- SLC4A1 0
- SLC4A4 0
- SLC52A2 0
- SLC52A3 0
- SLC5A7 0
- SLC6A3 0
- SLC6A5 0
- SLC6A8 0
- SLC7A7 0
- SLC9A3 0
- SLC9A6 0
- SMARCAL1 0
- SMN1 0
- SMPD1 0
- SMS 0
- SNAP29 0
- SNORD118 1
- SNX14 0
- SOST 0
- SP110 0
- SPAG1 0
- SPART 0
- SPATA5 0
- SPATA7 0
- SPEG 2
- SPG11 0
- SPINK5 0
- SPINT2 0
- SPR 0
- SQSTM1 0
- SRD5A3 0
- SSR4 0
- ST3GAL5 0
- STAMBP 0
- STAR 0
- STAT1 0
- STIL 0
- STIM1 0
- STRA6 0
- STRADA 0
- STUB1 0
- STX11 0
- STXBP2 0
- SUCLA2 0
- SUCLG1 0
- SUMF1 0
- SUOX 0
- SURF1 0
- SYN1 0
- SYP 0
- TALDO1 0
- TANGO2 0
- TAP1 0
- TAZ 0
- TBC1D23 0
- TBC1D24 0
- TBCD 0
- TBCE 0
- TBCK 0
- TBX19 0
- TCAP 0
- TCIRG1 0
- TCN2 0
- TCTN2 0
- TCTN3 0
- TDRD7 0
- TELO2 0
- TF 0
- TGM1 0
- TH 0
- THOC2 0
- TIMM8A 0
- TJP2 0
- TK2 0
- TMCO1 0
- TMEM107 0
- TMEM126A 0
- TMEM138 0
- TMEM165 0
- TMEM216 0
- TMEM231 0
- TMEM237 0
- TMEM5 1
- TMEM67 0
- TMEM70 0
- TMTC3 0
- TNFRSF11A 0
- TNFRSF11B 0
- TNFRSF13B 1
- TNFSF11 0
- TNNT1 0
- TOE1 0
- TPI1 0
- TPK1 0
- TPM3 0
- TPP1 0
- TRAPPC11 0
- TRAPPC9 0
- TRDN 0
- TREX1 0
- TRIM32 0
- TRIM37 0
- TRIP11 0
- TRIT1 0
- TRMT10A 0
- TRMU 0
- TRNT1 0
- TRPM6 0
- TSEN2 0
- TSEN54 0
- TSFM 0
- TSHB 0
- TSPAN7 2
- TTC19 0
- TTC21B 0
- TTC37 0
- TTC7A 0
- TTC8 0
- TTI2 0
- TTN 0
- TTPA 0
- TUBGCP4 0
- TUBGCP6 0
- TUFM 0
- TULP1 0
- TUSC3 0
- TWNK 0
- TXNL4A 1
- TYK2 0
- TYMP 0
- TYR 0
- TYRP1 0
- UBA1 0
- UBA5 0
- UBE2A 0
- UBE2T 0
- UBE3B 0
- UBR1 0
- UFM1 0
- UGT1A1 1
- UMPS 0
- UNC13D 0
- UNC80 0
- UPF3B 0
- UQCRQ 1
- UROS 0
- USB1 0
- USH1C 0
- USH1G 0
- USH2A 0
- USP9X 0
- VARS 1
- VARS2 0
- VIPAS39 0
- VKORC1 0
- VLDLR 0
- VMA21 0
- VPS11 0
- VPS13A 0
- VPS13B 0
- VPS33B 0
- VPS37A 2
- VPS45 0
- VPS53 0
- VRK1 0
- VSX2 0
- VWF 0
- WARS2 0
- WAS 0
- WDR19 0
- WDR34 1
- WDR35 0
- WDR45B 0
- WDR60 1
- WDR62 0
- WDR73 0
- WDR81 0
- WFS1 0
- WHRN 0
- WISP3 1
- WNK1 0
- WNT1 0
- WNT10B 0
- WNT7A 0
- WRAP53 0
- WRN 0
- WWOX 0
- XIAP 0
- XPA 0
- XPC 0
- XRCC4 0
- XYLT1 0
- XYLT2 0
- YARS2 0
- ZAP70 0
- ZBTB24 0
- ZC4H2 0
- ZDHHC9 0
- ZFYVE26 0
- ZIC3 0
- ZMPSTE24 0
- ZMYND10 0
- ZNF335 0
- ZNF711 0
- ZNHIT3 0
- B9D1 1
- COL2A1 1
- DYNC1I2 2
- ERBB3 3
- KCNE1 2
- MBTPS1 2
- MOGS 2
- NTNG2 2
- POLA1 1
- RPL10 2
- TMEM94 2
- TRAC 1
- XPNPEP3 1
- ABCA4 1
- ABCC6 1
- ACSF3 2
- ACY1 1
- ADPRHL2 2
- AFF2 1
- BCAP31 1
- CBS 1
- CD81 1
- CIB2 1
- COG5 1
- FAM161A 1
- FITM2 2
- GTPBP2 1
- IMPG2 1
- ISCA1 1
- ITGA3 1
- KRT8 2
- OPN1LW 1
- PDE6B 1
- PIP5K1C 2
- PTPN23 2
- PUS7 2
- TBC1D20 1
- TBX22 1
- TP53RK 1
- TPRKB 1
- TRAPPC12 1
- TRAPPC6B 1
- TSPYL1 2
- TUBA8 1
- UPB1 1
- UQCRC2 2
- YIF1B 2
- ZNF469 1
- PIBF1 1
- VAC14 1
STRs in panel
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Mackenzie's Mission_Reproductive Carrier Screening
Gene: ISCA1 Red List (low evidence)
ISCA1 (iron-sulfur cluster assembly 1)
EnsemblGeneIds (GRCh38): ENSG00000135070
EnsemblGeneIds (GRCh37): ENSG00000135070
OMIM: 611006, Gene2Phenotype
ISCA1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000135070
EnsemblGeneIds (GRCh37): ENSG00000135070
OMIM: 611006, Gene2Phenotype
ISCA1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert ReviewCreated: 15 Sep 2020, 9:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Publications
Created: 15 Sep 2020, 9:51 p.m.
Panel version: 0.23
Panel version: 0.23
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
- Tags
- for review
- OMIM
- 611006
- Clinvar variants
- Variants in ISCA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Jan 2025, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: isca1 has been classified as Red List (Low Evidence).
23 Jan 2025, Gel status: 1
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag for review tag was added to gene: ISCA1.
15 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ISCA1 was added gene: ISCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122 Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Review for gene: ISCA1 was set to GREEN