1. Analytes
  2. SGMS2

SGMS2

Analyte Export to PDF
Name:
sphingomyelin synthase 2
Symbol:
SGMS2
XREF(s):
OMIM
HGNC
Created:
18 Jul 2022 - 14:41
Changed:
18 Jul 2022 - 14:41
  • Osteogenesis Imperfecta (25 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANO5 95.00 0 NM_213599.3
    BMP1 95.00 0 NM_006129.5
    COL1A1 95.00 0 NM_000088.4
    COL1A2 95.00 0 NM_000089.4
    CREB3L1 95.00 0 NM_052854.4
    CRTAP 95.00 0 NM_006371.5
    FKBP10 95.00 0 NM_021939.4
    IFITM5 95.00 0 NM_001025295.3
    LRP5 95.00 0 NM_002335.4
    MBTPS2 95.00 0 NM_015884.4
    P3H1 95.00 0 NM_022356.4
    P4HB 95.00 0 NM_000918.4
    PLOD2 95.00 0 NM_182943.3
    PLS3 95.00 0 NM_005032.7
    PPIB 95.00 0 NM_000942.5
    SEC24D 95.00 0 NM_014822.4
    SERPINF1 95.00 0 NM_002615.7
    SERPINH1 95.00 0 NM_001235.5
    SGMS2 95.00 0 NM_001136257.2
    SP7 95.00 0 NM_001173467.3
    SPARC 95.00 0 NM_003118.4
    TENT5A 95.00 0 NM_017633.3
    TMEM38B 95.00 0 NM_018112.3
    WNT1 95.00 0 NM_005430.4
    XYLT2 95.00 0 NM_022167.4
  • Osteogenesis imperfecta and Osteoporosis (43 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 100.00 1
    ALPL 100.00 1
    B3GALT6 100.00 1
    BMP1 100.00 1
    COL1A1 100.00 1
    COL1A2 100.00 1
    CREB3L1 100.00 1
    CRTAP 100.00 1
    FKBP10 100.00 1
    IFITM5 100.00 1
    P3H1 100.00 1
    LRP5 100.00 1
    LRP6 100.00 1
    MBTPS2 100.00 1
    MIA3 100.00 1
    NBAS 100.00 1
    P4HB 100.00 1
    PLOD2 100.00 1
    PLS3 100.00 1
    PPIB 100.00 1
    SEC16B 100.00 1
    SEC24D 100.00 1
    SERPINF1 100.00 1
    SERPINH1 100.00 1
    SP7 100.00 1
    SPARC 100.00 1
    TAPT1 100.00 1
    TENT5A 100.00 1
    WNT1 100.00 1
    TMEM38B 100.00 1
    LIFR 100.00 1
    ARF5 100.00 1
    BICDL1 100.00 1
    CCDC134 100.00 1
    COPB2 100.00 1
    KDELR2 100.00 1
    MESD 100.00 1
    PHEX 100.00 1
    SGMS2 100.00 1
    STX18 100.00 1
    SUCO 100.00 1
    WNT3A 100.00 1
    XYLT2 100.00 1
  • Skeletal dysplasia (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALPL 100.00 1
    ALX3 100.00 1
    ARID1A 99.99 1
    B3GALT6 92.42 1
    CDC73 99.98 1
    COL11A1 99.99 1
    COL9A2 100.00 1
    CTSK 100.00 1
    DDR2 100.00 1
    DHCR24 100.00 1
    DVL1 100.00 1
    FAM20B 100.00 1
    FUCA1 100.00 1
    GNAI3 99.99 1
    GNPAT 99.96 1
    GORAB 99.99 1
    HHAT 100.00 1
    HS2ST1 99.93 1
    HSPG2 99.99 1
    IARS2 100.00 1
    LBR 99.99 1
    LMNA 100.00 1
    NLRP3 100.00 1
    NMNAT1 95.03 1
    NOTCH2 100.00 1
    NRAS 99.97 1
    ORC1 100.00 1
    P3H1 100.00 1
    PHGDH 100.00 1
    PIGV 100.00 1
    PLOD1 100.00 1
    POLR3GL 100.00 1
    PRKACB 100.00 1
    PRRX1 100.00 1
    RBM8A 100.00 1
    SDCCAG8 99.99 1
    SF3B4 100.00 1
    SKI 100.00 1
    SLC25A24 99.30 1
    SLC35D1 99.68 1
    TBCE 100.00 1
    TBX15 100.00 1
    TGFB2 100.00 1
    TMCO1 99.91 1
    TMEM53 100.00 1
    ZMPSTE24 99.99 1
    CHST3 100.00 1
    DNA2 99.99 1
    FBXW4 98.98 1
    FGFR2 100.00 1
    KAT6B 100.00 1
    KIF5B 99.93 1
    PAPSS2 99.93 1
    POLR3A 100.00 1
    SLC29A3 100.00 1
    SMC3 99.98 1
    TCTN3 100.00 1
    ALG9 94.06 1
    ALX4 100.00 1
    ANO5 100.00 1
    ARCN1 100.00 1
    B3GAT3 94.88 1
    BANF1 100.00 1
    BBS1 100.00 1
    C2CD3 99.99 1
    CDKN1C 100.00 1
    CREB3L1 100.00 1
    CYP2R1 98.84 1
    DPAGT1 100.00 1
    DYNC2H1 99.84 1
    EED 100.00 1
    EXT2 100.00 1
    FAM111A 100.00 1
    FAR1 99.98 1
    FERMT3 100.00 1
    HRAS 100.00 1
    IFITM5 100.00 1
    INPPL1 99.93 1
    LRP4 100.00 1
    LRP5 100.00 1
    LTBP3 100.00 1
    MMP13 99.99 1
    NADSYN1 100.00 1
    PIK3C2A 99.99 1
    PLCB3 100.00 1
    RASGRP2 100.00 1
    SERPINH1 100.00 1
    SLC39A13 100.00 1
    TCIRG1 100.00 1
    TMEM138 100.00 1
    TMEM216 100.00 1
    ABCC9 99.99 1
    ALX1 100.00 1
    ATP6V0A2 100.00 1
    BBS10 100.00 1
    CEP290 99.84 1
    CHST11 100.00 1
    COL2A1 100.00 1
    CYP27B1 100.00 1
    FGF23 100.00 1
    GDF3 100.00 1
    GNPTAB 100.00 1
    GNS 100.00 1
    IFT81 94.63 1
    LEMD3 100.00 1
    MAPKAPK5 100.00 1
    MGP 100.00 1
    PDE3A 100.00 1
    PEX5 100.00 1
    POLE 100.00 1
    POLR3B 99.98 1
    PTHLH 100.00 1
    PTPN11 99.98 1
    RFLNA 99.50 1
    SP7 100.00 1
    TBX3 100.00 1
    TBX5 100.00 1
    TCTN1 94.52 1
    TCTN2 99.95 1
    TRPV4 100.00 1
    VDR 99.44 1
    VPS33A 95.74 1
    WNT1 100.00 1
    WNT10B 100.00 1
    FGF9 99.98 1
    GPC6 100.00 1
    KL 98.69 1
    POLR1D 99.94 1
    TGDS 99.99 1
    TNFSF11 100.00 1
    AKT1 100.00 1
    GNPNAT1 99.99 1
    GSC 100.00 1
    IFT43 100.00 1
    KIAA0586 95.70 1
    LTBP2 100.00 1
    MMP14 100.00 1
    SEC23A 99.98 1
    SIX1 100.00 1
    SMOC1 100.00 1
    SRP54 99.97 1
    TGFB3 100.00 1
    LYSET 100.00 1
    TRIP11 99.98 1
    TTC8 99.96 1
    ACAN 98.67 1
    ADAMTS17 98.97 1
    BBS4 100.00 1
    CEP152 99.99 1
    CHST14 99.49 1
    CHSY1 99.98 1
    DLL4 100.00 1
    EFL1 100.00 1
    FBN1 100.00 1
    FMN1 100.00 1
    GREM1 100.00 1
    IDH2 99.93 1
    KIF7 99.98 1
    LRRK1 100.00 1
    MAP2K1 100.00 1
    MESD 100.00 1
    MESP2 100.00 1
    PPIB 100.00 1
    SMAD3 100.00 1
    SMAD6 100.00 1
    TCF12 100.00 1
    ANKRD11 100.00 1
    BBS2 100.00 1
    CBFB 100.00 1
    CDH3 100.00 1
    CDK10 100.00 1
    CDT1 99.07 1
    CLCN7 99.78 1
    COG4 100.00 1
    CREBBP 100.00 1
    DHODH 100.00 1
    GALNS 100.00 1
    GINS2 100.00 1
    GNPTG 99.45 1
    IFT140 100.00 1
    KIF22 100.00 1
    MBTPS1 100.00 1
    MMP2 100.00 1
    ORC6 99.99 1
    PAM16 100.00 1
    PRMT7 99.99 1
    RPGRIP1L 98.82 1
    RPL13 100.00 1
    RSPRY1 100.00 1
    SALL1 100.00 1
    TBC1D24 100.00 1
    TBX6 100.00 1
    TMEM231 100.00 1
    TRAF7 100.00 1
    VAC14 100.00 1
    XYLT1 98.81 1
    ACTG1 100.00 1
    BHLHA9 99.55 1
    CANT1 99.97 1
    CDC6 100.00 1
    COG1 100.00 1
    COL1A1 100.00 1
    DLX3 100.00 1
    EFTUD2 100.00 1
    EIF4A3 99.99 1
    FKBP10 100.00 1
    FZD2 100.00 1
    HES7 100.00 1
    KCNJ2 100.00 1
    KIAA0753 100.00 1
    MEOX1 100.00 1
    MKS1 100.00 1
    MYH3 100.00 1
    NAGLU 99.96 1
    NF1 99.98 1
    NOG 100.00 1
    NXN 100.00 1
    P4HB 100.00 1
    PLEKHM1 100.00 1
    PRKAR1A 100.00 1
    PYCR1 100.00 1
    SERPINF1 100.00 1
    SGSH 100.00 1
    SMARCE1 99.97 1
    SOST 100.00 1
    SOX9 100.00 1
    SUZ12 99.97 1
    TBX4 99.45 1
    WNT3 100.00 1
    XYLT2 100.00 1
    DYM 99.99 1
    LPIN2 99.99 1
    RBBP8 99.96 1
    SMAD2 100.00 1
    SMAD4 100.00 1
    SMCHD1 99.97 1
    TNFRSF11A 97.91 1
    ACP5 100.00 1
    ADAMTS10 100.00 1
    AKT2 100.00 1
    APC2 99.99 1
    B9D2 100.00 1
    CCDC8 100.00 1
    COMP 100.00 1
    DLL3 99.85 1
    DOCK6 100.00 1
    EPS15L1 100.00 1
    ERF 100.00 1
    FUZ 100.00 1
    GPX4 96.50 1
    LONP1 100.00 1
    MAN2B1 100.00 1
    MEGF8 99.96 1
    NFIX 99.97 1
    PRKACA 100.00 1
    SMARCA4 100.00 1
    TGFB1 100.00 1
    TYROBP 100.00 1
    UBA2 99.97 1
    ACVR1 100.00 1
    AFF3 100.00 1
    AGPS 99.76 1
    ANAPC1 99.82 1
    ARHGAP25 100.00 1
    BBS5 99.97 1
    CKAP2L 100.00 1
    COLEC11 100.00 1
    CRIPT 100.00 1
    CYP26B1 100.00 1
    DNMT3A 100.00 1
    DYNC2LI1 100.00 1
    EIF2AK3 99.96 1
    EN1 100.00 1
    EXOC6B 99.77 1
    FN1 100.00 1
    FOSL2 100.00 1
    GALNT3 99.99 1
    GLI2 100.00 1
    HAAO 100.00 1
    HDAC4 100.00 1
    HOXD13 100.00 1
    IDH1 100.00 1
    IFIH1 99.99 1
    IFT172 100.00 1
    IHH 100.00 1
    IL1RN 100.00 1
    KYNU 99.99 1
    LTBP1 100.00 1
    MAP3K20 100.00 1
    MATN3 99.95 1
    MTX2 99.95 1
    MYCN 99.97 1
    NBAS 100.00 1
    NPPC 100.00 1
    OBSL1 99.99 1
    ORC4 100.00 1
    PAX3 100.00 1
    PKDCC 99.76 1
    POLR1A 100.00 1
    POLR1B 100.00 1
    SIX2 100.00 1
    SMARCAL1 100.00 1
    TMEM237 99.98 1
    TRAF3IP1 100.00 1
    TTC21B 99.97 1
    WDPCP 91.91 1
    WDR35 99.99 1
    WNT6 100.00 1
    ASXL1 100.00 1
    BMP2 99.98 1
    COL9A3 100.00 1
    CTSA 100.00 1
    DDRGK1 100.00 1
    DPM1 97.07 1
    ELMO2 100.00 1
    GDF5 100.00 1
    GNAS 100.00 1
    GZF1 100.00 1
    IFT52 100.00 1
    LAMA5 99.87 1
    MAFB 100.00 1
    MKKS 99.98 1
    MMP9 100.00 1
    PLCB4 100.00 1
    SALL4 100.00 1
    SNRPB 100.00 1
    CFAP410 100.00 1
    DONSON 99.81 1
    PCNT 100.00 1
    ALG12 100.00 1
    CCDC134 100.00 1
    CDC45 100.00 1
    EP300 100.00 1
    FBLN1 99.89 1
    MCM5 100.00 1
    MYO18B 100.00 1
    PISD 100.00 1
    SMARCB1 100.00 1
    SPECC1L 100.00 1
    ALG3 100.00 1
    ARHGAP31 100.00 1
    ARL6 100.00 1
    ATR 99.98 1
    CASR 100.00 1
    COPB2 100.00 1
    CRTAP 99.90 1
    DVL3 100.00 1
    DYNLT2B 100.00 1
    EOGT 99.99 1
    FLNB 100.00 1
    GLB1 100.00 1
    HYAL1 100.00 1
    IFT122 100.00 1
    IFT80 99.94 1
    LMOD3 100.00 1
    MASP1 100.00 1
    MECOM 100.00 1
    NEPRO 99.99 1
    PCYT1A 100.00 1
    PIK3CA 99.97 1
    PLOD2 99.95 1
    POC1A 100.00 1
    PTH1R 100.00 1
    SETD2 99.99 1
    SLCO2A1 100.00 1
    SUMF1 100.00 1
    TGFBR2 100.00 1
    THPO 100.00 1
    TOP2B 99.85 1
    TP63 99.99 1
    TRAIP 100.00 1
    WNT5A 100.00 1
    WNT7A 100.00 1
    ZIC1 100.00 1
    AGA 100.00 1
    ANTXR2 100.00 1
    BBS12 100.00 1
    BBS7 99.97 1
    BMPR1B 100.00 1
    CC2D2A 98.21 1
    CENPE 99.92 1
    DMP1 100.00 1
    DSPP 100.00 1
    EDNRA 100.00 1
    EVC 96.08 1
    EVC2 100.00 1
    FGFR3 100.00 1
    HPGD 99.99 1
    IDUA 99.84 1
    INTU 100.00 1
    MAB21L2 100.00 1
    MANBA 99.99 1
    NEK1 99.99 1
    NKX3-2 100.00 1
    PRKG2 99.98 1
    RAB33B 100.00 1
    RBPJ 100.00 1
    SEC24D 100.00 1
    SGMS2 100.00 1
    SH3BP2 98.03 1
    SLC10A7 100.00 1
    TAPT1 98.76 1
    TMEM165 99.97 1
    UFSP2 99.99 1
    WDR19 99.94 1
    ANKH 100.00 1
    ARSB 99.92 1
    ARSK 99.98 1
    B4GALT7 99.95 1
    BNIP1 100.00 1
    CEP120 99.96 1
    CPLANE1 99.97 1
    CSF1R 100.00 1
    DNAJC21 100.00 1
    FBN2 99.99 1
    FGF10 100.00 1
    HSPA9 100.00 1
    IL6ST 99.99 1
    KIAA0825 99.99 1
    LIFR 99.94 1
    MSX2 100.00 1
    NIPBL 99.91 1
    NPR3 100.00 1
    NSD1 100.00 1
    PDE4D 99.99 1
    PDGFRB 100.00 1
    PITX1 100.00 1
    SH3PXD2B 100.00 1
    SLC26A2 100.00 1
    SPARC 100.00 1
    SQSTM1 100.00 1
    TCOF1 100.00 1
    XRCC4 100.00 1
    ZSWIM6 97.48 1
    ARID1B 99.51 1
    CCN6 100.00 1
    CILK1 99.92 1
    COL10A1 100.00 1
    COL11A2 100.00 1
    COL9A1 99.99 1
    CUL7 100.00 1
    DSE 99.66 1
    EDN1 100.00 1
    ENPP1 99.27 1
    FIG4 100.00 1
    FOXC1 99.89 1
    GCM2 100.00 1
    GJA1 100.00 1
    GMNN 99.99 1
    ID4 97.95 1
    MAP3K7 100.00 1
    MCM3 100.00 1
    NEU1 100.00 1
    OSTM1 99.96 1
    PEX7 100.00 1
    PGM3 100.00 1
    POLR1C 97.57 1
    RAB23 100.00 1
    RIPPLY2 99.85 1
    RUNX2 100.00 1
    SCUBE3 100.00 1
    SLC17A5 99.99 1
    SLC35B2 100.00 1
    TAB2 100.00 1
    TENT5A 100.00 1
    TFAP2B 100.00 1
    TREM2 100.00 1
    ACTB 100.00 1
    BBS9 99.96 1
    BMPER 100.00 1
    COL1A2 100.00 1
    CYP3A4 99.94 1
    DLX5 100.00 1
    DLX6 100.00 1
    DYNC2I1 96.68 1
    EZH2 99.98 1
    FAM20C 99.99 1
    FKBP14 99.95 1
    GLI3 100.00 1
    GUSB 100.00 1
    HOXA11 100.00 1
    HOXA13 96.84 1
    KDELR2 100.00 1
    LFNG 94.20 1
    LMBR1 99.96 1
    MCM7 100.00 1
    MET 100.00 1
    MNX1 87.84 1
    POR 100.00 1
    RINT1 99.95 1
    SBDS 100.00 1
    SFRP4 100.00 1
    SHH 100.00 1
    SLC4A2 100.00 1
    SMO 99.99 1
    SNX10 99.97 1
    TBXAS1 99.99 1
    TRPV6 99.41 1
    TWIST1 100.00 1
    ASAH1 99.99 1
    BMP1 100.00 1
    BPNT2 100.00 1
    CA2 100.00 1
    COLEC10 100.00 1
    CSGALNACT1 100.00 1
    CSPP1 99.99 1
    ESCO2 99.74 1
    EXT1 100.00 1
    EXTL3 100.00 1
    FGFR1 100.00 1
    GDF6 99.99 1
    HGSNAT 96.79 1
    NSMCE2 100.00 1
    POP1 100.00 1
    PTDSS1 100.00 1
    RAD21 100.00 1
    RECQL4 99.80 1
    RSPO2 100.00 1
    SLCO5A1 100.00 1
    SULF1 100.00 1
    TMEM67 99.30 1
    TNFRSF11B 100.00 1
    TONSL 100.00 1
    TRPS1 100.00 1
    ABL1 100.00 1
    ADAMTSL2 100.00 1
    COL27A1 100.00 1
    RIGI 99.97 1
    DYNC2I2 100.00 1
    HNRNPK 100.00 1
    IL11RA 100.00 1
    LMX1B 100.00 1
    MTAP 100.00 1
    NANS 100.00 1
    NOTCH1 100.00 1
    NPR2 100.00 1
    ROR2 99.98 1
    SLC34A3 100.00 1
    TGFBR1 100.00 1
    TMEM38B 100.00 1
    TRIM32 100.00 1
    VCP 100.00 1
    ZNF462 100.00 1
    AIFM1 100.00 1
    AMER1 100.00 1
    ARSL 100.00 1
    ATP7A 100.00 1
    BGN 100.00 1
    CCNQ 99.81 1
    CLCN5 100.00 1
    EBP 100.00 1
    EFNB1 100.00 1
    FANCB 100.00 1
    FGD1 100.00 1
    FGF16 100.00 1
    FLNA 100.00 1
    GPC3 100.00 1
    GPC4 100.00 1
    HDAC8 100.00 1
    IDS 100.00 1
    IKBKG 100.00 1
    MBTPS2 100.00 1
    MID1 100.00 1
    NSDHL 100.00 1
    OFD1 100.00 1
    PHEX 99.99 1
    PLS3 100.00 1
    PORCN 100.00 1
    SHOX 94.83 1
    SMC1A 100.00 1
    SMS 100.00 1
    TRAPPC2 100.00 1
    ZIC3 100.00 1