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: LDHB Green List (high evidence)
LDHB (lactate dehydrogenase B)
EnsemblGeneIds (GRCh38): ENSG00000111716
EnsemblGeneIds (GRCh37): ENSG00000111716
OMIM: 150100, Gene2Phenotype
LDHB is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000111716
EnsemblGeneIds (GRCh37): ENSG00000111716
OMIM: 150100, Gene2Phenotype
LDHB is in 3 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
Red List (low evidence)
> 30 families with LDHB deficiency had been reported and in none were deleterious effects on health observed. LDHB deficiency is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected. LDHB deficiency can probably be considered a 'nondisease.'
Not associated with clinical disease; Should be considered RED for Reproductive Carrier screening list.Created: 27 Mar 2022, 11:37 p.m. | Last Modified: 27 Mar 2022, 11:37 p.m.
Panel Version: 0.104
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lactate dehydrogenase-B deficiency, MIM# 614128
Publications
Created: 27 Mar 2022, 11:37 p.m.
Last Modified: 27 Mar 2022, 11:37 p.m.
Panel version: 0.104
Last Modified: 27 Mar 2022, 11:37 p.m.
Panel version: 0.104
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Mackenzie's Mission
- Phenotypes
-
- Lactate dehydrogenase-B deficiency, MIM# 614128
- Tags
- for review
- OMIM
- 150100
- Clinvar variants
- Variants in LDHB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Mar 2022, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag for review tag was added to gene: LDHB.
28 Mar 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ldhb has been classified as Green List (High Evidence).
27 Mar 2022, Gel status: 1
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: ldhb has been classified as Red List (Low Evidence).
27 Mar 2022, Gel status: 1
Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)Phenotypes for gene: LDHB were changed from Lactate dehydrogenase-B deficiency, 614128 (3) to Lactate dehydrogenase-B deficiency, MIM# 614128
27 Mar 2022, Gel status: 1
Set publications
Alison Yeung (Victorian Clinical Genetics Services)Publications for gene: LDHB were set to
27 Mar 2022, Gel status: 1
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: ldhb has been classified as Red List (Low Evidence).
19 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LDHB was added gene: LDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LDHB were set to Lactate dehydrogenase-B deficiency, 614128 (3)