- Panels
- Prepair 1000+
- B3GAT3
Genes in panel
- AAAS 2
- AARS2 1
- ABAT 1
- ABCA12 1
- ABCA3 1
- ABCB11 0
- ABCB4 1
- ABCB7 1
- ABCC8 1
- ABCD1 1
- ABHD5 1
- ACAD9 1
- ACADM 1
- ACADVL 1
- ACAT1 1
- ACE 1
- ACO2 1
- ACOX1 1
- ACTA1 1
- ADA 1
- ADA2 1
- ADAMTS13 1
- ADAMTS2 2
- ADAMTSL2 1
- ADAR 1
- ADAT3 1
- ADGRG1 1
- ADGRV1 1
- ADSL 1
- AGA 1
- AGBL5 1
- AGK 0
- AGL 1
- AGPS 1
- AGRN 1
- AGT 1
- AGXT 1
- AHI1 1
- AIFM1 1
- AIMP1 1
- AIPL1 1
- AK2 1
- AKR1D1 1
- ALAD 1
- ALDH18A1 1
- ALDH1A3 1
- ALDH3A2 2
- ALDH5A1 1
- ALDH7A1 1
- ALDOB 1
- ALG1 1
- ALG11 1
- ALG12 1
- ALG3 1
- ALG6 1
- ALG8 1
- ALG9 1
- ALMS1 1
- ALOX12B 2
- ALOXE3 2
- ALPL 1
- ALS2 1
- AMPD2 1
- AMT 2
- ANKS6 1
- ANTXR1 1
- ANTXR2 1
- AP1S2 1
- AP3B2 1
- AP4B1 1
- AP4M1 1
- AP4S1 1
- APOPT1 1
- APTX 1
- AQP2 1
- ARFGEF2 1
- ARG1 1
- ARHGEF9 1
- ARL13B 2
- ARL6 2
- ARMC4 2
- ARPC1B 1
- ARSA 1
- ARSB 1
- ARV1 2
- ARX 2
- ASAH1 2
- ASCC1 1
- ASL 1
- ASNS 1
- ASPA 1
- ASPM 1
- ASS1 1
- ATAD1 1
- ATCAY 1
- ATF6 1
- ATM 2
- ATOH7 1
- ATP13A2 3
- ATP6AP1 1
- ATP6V0A2 1
- ATP6V0A4 1
- ATP6V1B1 1
- ATP7A 1
- ATP7B 2
- ATP8A2 1
- ATP8B1 1
- ATR 1
- ATRX 1
- AUH 1
- B3GALNT2 2
- B3GALT6 1
- B3GAT3 1
- B3GLCT 1
- B4GALNT1 1
- B4GALT7 1
- BBS1 2
- BBS10 1
- BBS12 2
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCKDHA 1
- BCKDHB 1
- BCKDK 1
- BCS1L 1
- BGN 3
- BIN1 1
- BLM 1
- BMPER 1
- BMPR1B 1
- BOLA3 1
- BRAT1 1
- BRF1 1
- BRWD3 0
- BSCL2 1
- BSND 1
- BTK 1
- BUB1B 1
- C12orf57 1
- C12orf65 1
- C19orf12 1
- C1QA 2
- C1QB 1
- C1QC 2
- C21orf2 1
- C2CD3 1
- C3 1
- C5 1
- C5orf42 1
- C8orf37 1
- CA2 1
- CABP4 2
- CANT1 1
- CAPN3 1
- CARD11 2
- CARS2 1
- CASK 0
- CASQ2 2
- CASR 1
- CAVIN1 1
- CC2D1A 1
- CC2D2A 1
- CCBE1 1
- CCDC103 1
- CCDC114 1
- CCDC115 1
- CCDC39 1
- CCDC40 1
- CCDC8 2
- CCDC88C 1
- CCNO 1
- CD27 1
- CD3D 1
- CD40 1
- CD40LG 1
- CD55 1
- CDC45 1
- CDH11 1
- CDH23 1
- CDH3 1
- CDK10 1
- CDK5RAP2 1
- CDT1 1
- CENPJ 1
- CEP120 1
- CEP152 1
- CEP290 1
- CEP41 2
- CEP78 1
- CERS3 1
- CFD 1
- CFH 2
- CFI 1
- CFL2 1
- CFP 1
- CFTR 1
- CHAT 1
- CHKB 1
- CHRNA1 1
- CHRND 1
- CHRNE 1
- CHRNG 1
- CHST14 1
- CHST3 1
- CHSY1 1
- CIITA 1
- CISD2 1
- CIT 1
- CKAP2L 1
- CLCF1 1
- CLCN2 1
- CLCN4 1
- CLCN5 1
- CLCN7 1
- CLCNKB 2
- CLDN1 1
- CLDN10 2
- CLDN19 1
- CLMP 1
- CLN3 1
- CLN5 1
- CLN6 1
- CLN8 0
- CLP1 1
- CLPB 1
- CLPP 1
- CLRN1 1
- CNGB3 1
- CNNM4 1
- CNTNAP1 1
- CNTNAP2 1
- COG6 1
- COG7 1
- COL11A1 1
- COL11A2 0
- COL17A1 1
- COL18A1 1
- COL27A1 1
- COL4A3 1
- COL4A4 1
- COL4A5 1
- COL6A1 1
- COL6A2 1
- COL6A3 1
- COL7A1 1
- COLEC11 1
- COLQ 1
- COQ2 1
- COQ4 1
- COQ6 1
- COQ8A 1
- COQ8B 1
- COX10 1
- COX15 1
- COX20 1
- CPS1 1
- CPT1A 1
- CPT2 1
- CRB1 2
- CRB2 1
- CRLF1 1
- CRTAP 1
- CSPP1 0
- CSTB 2
- CTC1 1
- CTNS 1
- CTPS1 1
- CTSA 1
- CTSC 2
- CTSD 2
- CTSF 1
- CTSK 1
- CUL4B 1
- CUL7 1
- CWC27 1
- CYB5R3 1
- CYBA 1
- CYBB 1
- CYP11A1 1
- CYP11B2 1
- CYP17A1 1
- CYP1B1 1
- CYP27A1 2
- CYP2U1 1
- CYP4F22 1
- CYP7B1 1
- D2HGDH 1
- DARS 1
- DARS2 1
- DBT 2
- DCAF17 1
- DCDC2 1
- DCHS1 1
- DCLRE1C 1
- DCX 1
- DDC 1
- DDHD2 1
- DDR2 1
- DDX11 1
- DDX59 1
- DENND5A 1
- DGAT1 1
- DGKE 1
- DGUOK 1
- DHCR24 0
- DHCR7 1
- DHDDS 1
- DHODH 1
- DIS3L2 1
- DKC1 1
- DLD 1
- DLG3 1
- DLL3 1
- DMD 1
- DNAAF1 1
- DNAAF3 1
- DNAAF4 0
- DNAAF5 1
- DNAH11 1
- DNAH5 0
- DNAI1 1
- DNAI2 2
- DNAJC12 1
- DNAJC19 1
- DNAJC21 0
- DNAJC6 0
- DNMT3B 1
- DOCK2 1
- DOCK6 1
- DOCK8 1
- DOK7 1
- DOLK 0
- DONSON 1
- DPAGT1 1
- DPH1 1
- DSP 1
- DYM 1
- DYNC2H1 0
- DYNC2LI1 1
- DYSF 2
- EARS2 1
- ECEL1 1
- ECHS1 1
- EDA 1
- EDAR 1
- EFEMP2 1
- EFNB1 3
- EIF2AK3 1
- EIF2AK4 0
- EIF2B1 1
- EIF2B2 1
- EIF2B3 0
- EIF2B4 1
- EIF2B5 1
- EIF2S3 1
- ELAC2 1
- ELP1 1
- ELP2 1
- EMD 1
- EML1 1
- ENPP1 1
- EOGT 1
- EPCAM 1
- EPG5 1
- EPM2A 1
- ERCC2 1
- ERCC4 0
- ERCC5 0
- ERCC6 1
- ERCC6L2 1
- ERCC8 1
- ESCO2 2
- ETFA 1
- ETFB 1
- ETFDH 1
- ETHE1 1
- EVC 1
- EVC2 1
- EXOSC3 1
- EXOSC8 1
- EXTL3 1
- F2 3
- F7 1
- FA2H 2
- FAH 0
- FAM126A 0
- FAM20C 0
- FANCA 0
- FANCB 1
- FANCC 2
- FANCD2 0
- FANCE 1
- FANCF 1
- FANCG 1
- FANCI 1
- FANCL 0
- FARS2 1
- FAT4 1
- FBLN5 1
- FBP1 0
- FBXL4 1
- FBXO7 1
- FERMT1 1
- FERMT3 0
- FGA 1
- FGB 1
- FGD4 0
- FGG 1
- FH 1
- FHL1 0
- FIG4 1
- FKBP10 1
- FKBP14 0
- FKRP 1
- FKTN 1
- FLAD1 0
- FLNA 1
- FLNB 1
- FLVCR1 1
- FLVCR2 0
- FMR1 2
- FOLR1 1
- FOXE3 1
- FOXN1 1
- FOXP3 1
- FOXRED1 1
- FRAS1 0
- FREM1 2
- FREM2 1
- FRRS1L 1
- FTO 2
- FTSJ1 0
- FUCA1 1
- FYCO1 0
- G6PC 1
- G6PC3 2
- GAA 0
- GALC 1
- GALNS 1
- GALT 1
- GAMT 1
- GAN 1
- GAS8 1
- GATM 1
- GBA2 1
- GBE1 1
- GCDH 1
- GCH1 2
- GDAP1 1
- GDF1 1
- GDF5 1
- GDI1 1
- GFM1 1
- GFPT1 1
- GHR 1
- GJA1 1
- GJB1 3
- GJC2 0
- GLA 2
- GLB1 1
- GLDC 1
- GLDN 0
- GLE1 1
- GLIS3 1
- GLYCTK 1
- GM2A 1
- GMPPA 1
- GMPPB 2
- GNAT2 1
- GNB5 1
- GNE 2
- GNPAT 1
- GNPTAB 1
- GNPTG 0
- GNS 1
- GORAB 1
- GOSR2 1
- GPAA1 1
- GPC3 1
- GPC6 1
- GPHN 1
- GPR143 2
- GPR179 0
- GPSM2 1
- GPT2 1
- GRM1 1
- GSS 1
- GTF2H5 1
- GTPBP3 1
- GUCY1A3 1
- GUCY2C 0
- GUCY2D 1
- GUSB 1
- HACE1 1
- HADH 0
- HADHA 0
- HADHB 1
- HAMP 0
- HAX1 1
- HBB 0
- HCFC1 1
- HEPACAM 1
- HERC2 1
- HES7 1
- HESX1 1
- HEXA 0
- HEXB 1
- HFE2 1
- HGSNAT 1
- HIBCH 1
- HINT1 1
- HK1 2
- HLCS 1
- HMGCL 0
- HMGCS2 0
- HOXA1 1
- HPD 1
- HPGD 2
- HPRT1 1
- HPS1 2
- HPS3 0
- HPS4 1
- HPS5 1
- HPS6 2
- HPSE2 2
- HSD17B10 1
- HSD17B4 2
- HSD3B2 1
- HSD3B7 0
- HSPD1 0
- HSPG2 1
- HTRA2 1
- HUWE1 1
- HYDIN 1
- HYLS1 0
- IARS 1
- IARS2 1
- IBA57 0
- ICOS 1
- IDS 1
- IDUA 0
- IER3IP1 0
- IFNGR1 1
- IFNGR2 1
- IFT122 1
- IFT140 1
- IFT172 0
- IFT80 1
- IGF1R 0
- IGHMBP2 1
- IKBKB 1
- IL10RA 1
- IL10RB 1
- IL11RA 1
- IL12RB1 2
- IL17RA 1
- IL1RAPL1 1
- IL1RN 1
- IL2RG 1
- IL7R 1
- INPP5E 1
- INPP5K 0
- INPPL1 1
- INSR 1
- INVS 0
- IQCB1 1
- IQSEC2 0
- ISCA2 1
- ISPD 1
- ITCH 2
- ITGA6 1
- ITGB2 1
- ITGB4 1
- ITK 0
- ITPR1 1
- IVD 0
- JAGN1 1
- JAK3 1
- JAM3 1
- JUP 1
- KATNB1 1
- KCNJ1 1
- KCNJ10 1
- KCNJ11 2
- KCNQ1 3
- KCNV2 0
- KCTD7 1
- KDM5C 0
- KIAA0586 1
- KIAA1109 0
- KIF14 2
- KIF1A 1
- KIF1BP 1
- KIF1C 1
- KIF7 0
- KLHL40 1
- KLHL41 1
- KLHL7 1
- KNL1 1
- KPTN 1
- KRT10 1
- KRT14 1
- KRT5 1
- KY 1
- L1CAM 0
- L2HGDH 1
- LAMA1 0
- LAMA2 1
- LAMA3 1
- LAMB1 1
- LAMB2 0
- LAMB3 1
- LAMC2 2
- LAMC3 1
- LARGE1 1
- LARP7 1
- LARS 1
- LARS2 0
- LAT 2
- LBR 2
- LCA5 1
- LCAT 2
- LDHA 1
- LDLR 2
- LDLRAP1 1
- LEP 1
- LGI4 1
- LHX3 1
- LIAS 1
- LIFR 0
- LIG4 2
- LINS1 2
- LIPA 0
- LIPC 0
- LIPT1 1
- LMAN1 1
- LMBR1 0
- LMBRD1 1
- LMNA 2
- LMOD3 1
- LONP1 0
- LPIN1 1
- LPIN2 1
- LPL 1
- LRAT 0
- LRBA 1
- LRIG2 0
- LRMDA 0
- LRP2 0
- LRP4 1
- LRP5 1
- LRPPRC 1
- LRRC6 2
- LRSAM1 0
- LTBP3 0
- LTBP4 0
- LYRM7 1
- LYST 0
- LZTFL1 1
- MALT1 1
- MAN1B1 1
- MAN2B1 1
- MANBA 1
- MAOA 1
- MAPKBP1 0
- MARS 1
- MARS2 1
- MASP1 1
- MBOAT7 1
- MBTPS2 0
- MC2R 1
- MCFD2 1
- MCOLN1 1
- MCPH1 1
- MECP2 1
- MED12 0
- MED17 1
- MED23 1
- MED25 1
- MEGF10 0
- MEGF8 1
- MERTK 1
- MESP2 1
- METTL23 0
- MFN2 0
- MFSD2A 1
- MFSD8 1
- MGAT2 1
- MGME1 1
- MGP 1
- MICU1 0
- MID1 1
- MKKS 1
- MKS1 0
- MLC1 0
- MLYCD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 1
- MMP2 0
- MMP21 1
- MOCS1 1
- MOCS2 1
- MPDZ 1
- MPI 1
- MPL 1
- MPLKIP 1
- MPV17 1
- MPZ 2
- MRAP 1
- MRE11 1
- MSTO1 0
- MTFMT 1
- MTHFD1 0
- MTHFR 1
- MTM1 1
- MTMR2 1
- MTO1 1
- MTR 1
- MTRR 1
- MTTP 0
- MUSK 0
- MUT 1
- MVK 1
- MYD88 0
- MYMK 1
- MYO5B 1
- MYO7A 1
- NAA10 1
- NAGA 0
- NAGLU 1
- NAGS 1
- NALCN 1
- NANS 1
- NARS2 1
- NAXE 1
- NBAS 2
- NBN 1
- NCF2 0
- NDE1 0
- NDP 0
- NDRG1 1
- NDUFA1 1
- NDUFA10 1
- NDUFAF2 1
- NDUFAF5 1
- NDUFAF6 1
- NDUFS1 1
- NDUFS2 1
- NDUFS4 0
- NDUFS6 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NDUFV2 0
- NEB 2
- NECTIN1 1
- NEK1 1
- NEK8 1
- NEU1 1
- NEXMIF 1
- NFU1 1
- NGF 1
- NGLY1 1
- NHEJ1 1
- NHLRC1 1
- NHS 1
- NIPAL4 1
- NKX3-2 1
- NKX6-2 1
- NMNAT1 1
- NNT 1
- NPC1 2
- NPC2 1
- NPHP1 1
- NPHP3 1
- NPHP4 1
- NPHS1 1
- NPHS2 1
- NPR2 1
- NR0B1 0
- NSDHL 1
- NSUN2 0
- NT5C2 0
- NTRK1 1
- NUBPL 0
- NUP107 0
- NUP93 1
- NYX 1
- OBSL1 1
- OCLN 1
- OCRL 1
- OFD1 1
- OPA1 0
- OPA3 1
- OPHN1 1
- ORAI1 1
- ORC1 1
- ORC6 1
- OSGEP 0
- OSTM1 0
- OTC 0
- OTUD6B 0
- P3H1 1
- PAH 0
- PAK3 0
- PANK2 1
- PAPSS2 1
- PC 1
- PCCA 0
- PCCB 1
- PCDH12 1
- PCDH15 0
- PCDH19 2
- PCNT 1
- PCSK1 0
- PCYT1A 1
- PDE6C 2
- PDHA1 3
- PDHB 1
- PDP1 0
- PEPD 0
- PET100 0
- PEX1 1
- PEX10 1
- PEX11B 1
- PEX12 1
- PEX13 1
- PEX16 1
- PEX2 1
- PEX26 1
- PEX3 1
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 1
- PGAP1 0
- PGAP2 1
- PGAP3 1
- PGK1 2
- PGM1 1
- PGM3 1
- PHF6 0
- PHF8 1
- PHGDH 1
- PHYH 1
- PIBF1 2
- PIEZO2 1
- PIGA 1
- PIGG 1
- PIGL 1
- PIGN 0
- PIGO 2
- PIGT 1
- PIGV 1
- PIH1D3 1
- PKHD1 1
- PKLR 1
- PLA2G6 1
- PLAA 0
- PLCE1 0
- PLEC 0
- PLG 2
- PLOD1 0
- PLOD2 1
- PLP1 1
- PLPBP 1
- PMM2 1
- PMPCA 1
- PNKP 2
- PNP 0
- PNPLA6 0
- PNPO 1
- POC1A 0
- POLG 0
- POLR1C 1
- POLR3A 0
- POLR3B 0
- POMC 1
- POMGNT1 2
- POMGNT2 1
- POMK 1
- POMP 2
- POMT1 1
- POMT2 0
- POP1 1
- POR 1
- POU1F1 1
- PPA2 0
- PPIB 0
- PPT1 0
- PQBP1 1
- PRDM12 0
- PRDM5 1
- PRF1 1
- PRG4 1
- PRICKLE1 1
- PRKRA 3
- PROC 3
- PROP1 1
- PROS1 0
- PRPS1 1
- PRUNE1 1
- PRX 0
- PSAP 1
- PSAT1 1
- PSMB8 0
- PSPH 0
- PTH1R 1
- PTS 1
- PUS1 0
- PXDN 1
- PYCR1 0
- PYCR2 1
- PYROXD1 1
- QARS 1
- QDPR 0
- RAB18 1
- RAB23 0
- RAB27A 0
- RAB33B 1
- RAB39B 1
- RAB3GAP1 1
- RAB3GAP2 1
- RAD50 0
- RAG1 0
- RAG2 1
- RAPSN 1
- RARB 0
- RARS 1
- RARS2 1
- RAX 1
- RBBP8 1
- RBCK1 1
- RBM10 1
- RCBTB1 1
- RD3 0
- RDH12 1
- RECQL4 1
- REEP6 1
- REN 1
- RETREG1 1
- RFT1 0
- RFX6 0
- RFXANK 1
- RFXAP 1
- RIN2 1
- RIPK4 1
- RLIM 1
- RMND1 1
- RMRP 2
- RNASEH2A 0
- RNASEH2B 1
- RNASEH2C 1
- RNASET2 0
- RNU4ATAC 1
- ROBO3 1
- ROGDI 1
- ROR2 0
- RORC 1
- RP2 1
- RPE65 1
- RPGRIP1 1
- RPGRIP1L 0
- RPL10 3
- RPS6KA3 1
- RRM2B 0
- RSPH1 1
- RSPH4A 0
- RSPH9 1
- RTEL1 1
- RTN4IP1 1
- RTTN 1
- RYR1 3
- SACS 2
- SAMHD1 0
- SAR1B 1
- SARS2 1
- SBDS 1
- SBF2 2
- SC5D 1
- SCARB2 1
- SCARF2 1
- SCN9A 0
- SCNN1A 0
- SCNN1B 0
- SCO2 1
- SCYL1 1
- SDCCAG8 1
- SDHAF1 1
- SEC23B 0
- SELENON 0
- SEPSECS 0
- SERAC1 1
- SERPINF1 1
- SERPINH1 1
- SETX 1
- SFTPB 1
- SGCA 1
- SGCB 1
- SGCD 1
- SGCG 1
- SGPL1 1
- SGSH 1
- SH2D1A 1
- SH3PXD2B 1
- SH3TC2 1
- SIL1 1
- SKIV2L 0
- SLC12A1 1
- SLC12A5 0
- SLC12A6 1
- SLC13A5 1
- SLC16A1 1
- SLC16A2 1
- SLC17A5 1
- SLC19A2 1
- SLC19A3 1
- SLC1A4 0
- SLC22A5 1
- SLC24A5 1
- SLC25A1 1
- SLC25A13 1
- SLC25A15 1
- SLC25A19 1
- SLC25A22 1
- SLC25A38 1
- SLC25A46 1
- SLC26A2 2
- SLC26A3 1
- SLC29A3 1
- SLC2A10 1
- SLC2A2 1
- SLC30A10 0
- SLC33A1 1
- SLC35A3 1
- SLC35D1 1
- SLC37A4 0
- SLC38A8 1
- SLC39A14 1
- SLC39A4 0
- SLC39A8 0
- SLC45A2 2
- SLC46A1 1
- SLC4A1 0
- SLC4A4 1
- SLC52A2 0
- SLC52A3 0
- SLC5A7 1
- SLC6A3 1
- SLC6A5 1
- SLC6A8 0
- SLC7A7 0
- SLC9A3 2
- SLC9A6 1
- SMARCAL1 0
- SMN1 2
- SMPD1 0
- SMS 1
- SNAP29 1
- SNX14 1
- SOST 1
- SP110 0
- SPAG1 1
- SPART 2
- SPATA5 0
- SPATA7 1
- SPEG 1
- SPG11 2
- SPINK5 1
- SPINT2 0
- SPR 0
- SQSTM1 1
- SRD5A3 0
- SSR4 1
- ST3GAL5 0
- STAMBP 1
- STAR 1
- STAT1 1
- STIL 1
- STIM1 0
- STRA6 0
- STRADA 1
- STUB1 2
- STX11 1
- STXBP2 1
- SUCLA2 1
- SUCLG1 1
- SUMF1 1
- SUOX 1
- SURF1 3
- SYN1 2
- SYP 2
- TALDO1 1
- TANGO2 1
- TAP1 1
- TAT 3
- TAZ 1
- TBC1D23 0
- TBC1D24 1
- TBCD 1
- TBCE 1
- TBCK 1
- TBX19 0
- TCAP 1
- TCIRG1 0
- TCN2 1
- TCTN2 1
- TCTN3 1
- TDRD7 1
- TECPR2 2
- TELO2 1
- TF 1
- TGM1 1
- TH 1
- THOC2 1
- TIMM8A 1
- TJP2 0
- TK2 1
- TMCO1 1
- TMEM107 1
- TMEM126A 1
- TMEM138 1
- TMEM165 0
- TMEM216 1
- TMEM231 0
- TMEM237 0
- TMEM5 0
- TMEM67 1
- TMEM70 1
- TMTC3 1
- TNFRSF11A 1
- TNFRSF11B 1
- TNFSF11 1
- TNNT1 0
- TOE1 0
- TPI1 1
- TPK1 1
- TPM3 1
- TPP1 0
- TRAPPC11 0
- TRAPPC9 1
- TRDN 1
- TREX1 1
- TRIM32 0
- TRIM37 1
- TRIP11 1
- TRIT1 0
- TRMT10A 0
- TRMU 1
- TRNT1 1
- TRPM6 0
- TSEN2 1
- TSEN54 1
- TSFM 1
- TSHB 1
- TTC19 1
- TTC21B 1
- TTC37 1
- TTC7A 1
- TTC8 1
- TTI2 0
- TTPA 0
- TUBGCP4 1
- TUBGCP6 1
- TUFM 2
- TULP1 1
- TUSC3 1
- TWNK 1
- TXNL4A 1
- TYK2 1
- TYMP 0
- TYR 1
- TYRP1 1
- UBA1 2
- UBA5 1
- UBE2A 1
- UBE2T 1
- UBE3B 0
- UBR1 1
- UFM1 0
- UGT1A1 1
- UMPS 1
- UNC13D 1
- UNC80 0
- UPF3B 1
- UROS 1
- USB1 1
- USH1C 1
- USH1G 0
- USH2A 0
- USP9X 2
- VARS 0
- VARS2 1
- VIPAS39 0
- VKORC1 1
- VLDLR 1
- VMA21 1
- VPS11 3
- VPS13B 0
- VPS33B 0
- VPS45 1
- VPS53 1
- VRK1 1
- VSX2 1
- WARS2 1
- WAS 2
- WDR19 1
- WDR34 1
- WDR35 0
- WDR45B 1
- WDR60 1
- WDR62 1
- WDR73 0
- WDR81 1
- WFS1 1
- WHRN 1
- WISP3 0
- WNK1 1
- WNT1 1
- WNT10B 0
- WNT7A 1
- WRAP53 0
- WRN 2
- WWOX 1
- XIAP 1
- XPA 1
- XPC 0
- XRCC4 0
- XYLT1 1
- XYLT2 0
- YARS2 1
- ZAP70 1
- ZBTB24 1
- ZC4H2 1
- ZDHHC9 1
- ZFYVE26 1
- ZIC3 1
- ZMPSTE24 1
- ZMYND10 1
- ZNF335 0
- ZNF711 1
- ZNHIT3 1
- ADPRHL2 2
- AFF2 2
- AIRE 2
- B9D1 1
- BTD 3
- CERKL 3
- CNGA3 3
- DYNC1I2 2
- ERBB3 2
- F5 3
- GBA 1
- IGHM 2
- IKBKG 2
- MBTPS1 2
- MOGS 2
- NCF1 1
- NTNG2 2
- PIP5K1C 2
- POLA1 1
- RPGR 1
- SHOX 1
- TMEM94 1
- TTN 1
- VWF 1
- XPNPEP3 0
- ABCA4 1
- ABCC6 1
- ACSF3 1
- ACY1 1
- ALG2 3
- BCAP31 2
- C6 2
- C7 2
- C8B 3
- CARD9 2
- CBS 1
- CD81 1
- CHM 3
- CIB2 1
- COG5 2
- COL2A1 2
- CSMD1 1
- CYP21A2 2
- DSTYK 2
- EMG1 2
- EYS 3
- F11 2
- F8 1
- F9 2
- FAM161A 1
- FITM2 0
- FTCD 3
- G6PD 2
- GALK1 2
- GJB2 2
- GK 2
- GP1BA 2
- GP9 2
- GRHPR 3
- GTPBP2 1
- GYS2 2
- HBA1 3
- HBA2 3
- HFE 1
- HGD 1
- HOGA1 2
- HYAL1 2
- IGFBP7 2
- IMPG2 1
- ISCA1 1
- ITGA3 2
- KCNE1 3
- KRT8 1
- KRT85 3
- LDHB 2
- LOXHD1 2
- MCCC1 3
- MCCC2 1
- MCM4 2
- MEFV 2
- MFRP 1
- NDUFA11 2
- NLGN4X 2
- NR2E3 2
- NUP62 3
- OAT 2
- OCA2 2
- OPN1LW 0
- PDE6B 0
- PKD1L1 1
- PTPN23 0
- PUS7 0
- PYGM 2
- RS1 2
- SAMD9 1
- SEC23A 2
- SEMA4A 3
- SERPINA1 1
- SGO1 2
- SLC12A3 2
- SLC26A4 2
- SLC4A11 3
- SNORD118 2
- TBC1D20 0
- TBX22 2
- TFR2 2
- TNFRSF13B 1
- TP53RK 1
- TPRKB 1
- TRAC 3
- TRAPPC12 0
- TRAPPC6B 1
- TSPAN7 2
- TSPYL1 2
- TUBA8 1
- UPB1 1
- UQCRC2 1
- UQCRQ 1
- VPS13A 2
- VPS37A 1
- WNT10A 2
- YIF1B 2
- ZNF469 0
- AMN 1
- BRIP1 1
- DBR1 0
- HPDL 0
- OTULIN 0
- OXCT1 0
- PIEZO1 1
- SCN1B 1
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Prepair 1000+
Gene: B3GAT3 Green List (high evidence)
B3GAT3 (beta-1,3-glucuronyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 16 panels
1 review
Lucy Spencer (Victorian Clinical Genetics Services)
Green List (high evidence)
Is the phenotype(s) severe and onset <18yo ? Yes, biallelic B3GAT3 mutations are known to cause a skeletal dysplasia phenotype, JDSCD, characterised by shortened and bowed long bones, spine curvatures, and foot deformities. Other common features include facial dysmorphism, joint dislocation, congenital cardiac defects, joint contractures and bone fragility. Lethality before the age of 1 year has also been reported. (PMID: 31988067)Created: 25 Jul 2024, 10:37 p.m. | Last Modified: 25 Jul 2024, 10:37 p.m.
Panel Version: 1.65
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600
Publications
- PMID: 31988067
Created: 25 Jul 2024, 10:37 p.m.
Last Modified: 25 Jul 2024, 10:37 p.m.
Panel version: 1.65
Last Modified: 25 Jul 2024, 10:37 p.m.
Panel version: 1.65
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Mackenzie's Mission
- Phenotypes
-
- Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)
- OMIM
- 606374
- Clinvar variants
- Variants in B3GAT3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Craniosynostosis
- Short Long Bones with Advanced Carpal Bone Age
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Congenital Heart Defect
- Multiple joint dislocations and laxity
- Mendeliome
History Filter Activity
6 Aug 2024, Gel status: 3
Entity classified by Genomics England curator
Lilian Downie (Victorian Clinical Genetics Services)Gene: b3gat3 has been classified as Green List (High Evidence).
6 Aug 2024, Gel status: 3
Set publications
Lilian Downie (Victorian Clinical Genetics Services)Publications for gene: B3GAT3 were set to
1 Jun 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: B3GAT3 was added gene: B3GAT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)