- Panels
- Prepair 1000+
- GALNS
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: GALNS Green List (high evidence)
GALNS (galactosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 12 panels
1 review
Lisa Norbart (Victorian Clinical Genetics Services)
Green List (high evidence)
Well established gene-disease association. Also known as Morquio syndrome A.
Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications.
Most appear normal at birth, with onset in the first few years of life. Spectrum of severity, some case reports of presentation with ascites/hydrops, severe form is associated with death by second or third decade.Created: 15 Oct 2024, 10:47 p.m. | Last Modified: 15 Oct 2024, 10:47 p.m.
Panel Version: 1.420
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis IVA, MIM#253000
Publications
Created: 15 Oct 2024, 10:47 p.m.
Last Modified: 15 Oct 2024, 10:47 p.m.
Panel version: 1.420
Last Modified: 15 Oct 2024, 10:47 p.m.
Panel version: 1.420
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Mackenzie's Mission
- Phenotypes
-
- Mucopolysaccharidosis IVA, 253000 (3)
- OMIM
- 612222
- Clinvar variants
- Variants in GALNS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Oct 2024, Gel status: 3
Entity classified by Genomics England curator
Lilian Downie (Victorian Clinical Genetics Services)Gene: galns has been classified as Green List (High Evidence).
20 Oct 2024, Gel status: 3
Set publications
Lilian Downie (Victorian Clinical Genetics Services)Publications for gene: GALNS were set to
2 Nov 2023, Gel status: 3
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Added phenotypes Mucopolysaccharidosis IVA, 253000 (3) for gene: GALNS
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: GALNS was added gene: GALNS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)