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Noonan syndrome

Disease Export to PDF
Name:
Noonan syndrome
Description:
A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.
ORPHAcode:
648
XREF(s):
Orphanet
MedDRA
ICD-10
OMIM
OMIM
OMIM
OMIM
MeSH
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
Analyte(s):
RRAS
MRAS
SPRED2
RRAS2
PTPN11
CBL
SOS1
KRAS
RAF1
NRAS
RIT1
LZTR1
RASA2
SOS2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cardiomyopathy, hereditary (208 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACADVL 98.89 0 No comment
    ACE 97.11 0 No comment
    ACTA1 100.00 0 No comment
    ACTC1 100.00 0 No comment
    ACTN2 100.00 0 No comment
    ADD3 100.00 0 No comment
    ADRB2 100.00 0 No comment
    AGXT 100.00 0 No comment
    AGTR1 100.00 0 No comment
    AKAP9 100.00 0 No comment
    ALPK3 98.02 0 No comment
    ANKRD1 100.00 0 No comment
    APOA1 99.97 0 No comment
    B2M 100.00 0 No comment
    BAG3 100.00 0 No comment
    BRAF 96.97 0 No comment
    CACNA1C 100.00 0 No comment
    CACNB2 100.00 0 No comment
    CALM1 100.00 0 No comment
    CALM2 100.00 0 No comment
    CALM3 99.99 0 No comment
    CALR3 100.00 0 No comment
    CASQ2 100.00 0 No comment
    CASZ1 95.56 0 No comment
    CAV3 100.00 0 No comment
    CAVIN4 100.00 0 No comment
    CBL 100.00 0 No comment
    CDH2 97.48 0 No comment
    CHRM2 100.00 0 No comment
    CMYA5 99.99 0 No comment
    CNBP 100.00 0 No comment
    COA5 100.00 0 No comment
    COA6 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 100.00 0 No comment
    CRYAB 100.00 0 No comment
    CSRP3 100.00 0 No comment
    CTF1 30.96 0 No comment
    CTNNA3 100.00 0 No comment
    DES 100.00 0 No comment
    DLG1 100.00 0 No comment
    DMD 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNM1L 100.00 0 No comment
    DOLK 100.00 0 No comment
    DSC3 98.44 0 No comment
    DSG2 99.61 0 No comment
    DSP 100.00 0 No comment
    DTNA 100.00 0 No comment
    ECRG4 99.32 0 No comment
    ELAC2 99.99 0 No comment
    ELN 100.00 0 No comment
    EMD 99.84 0 No comment
    EYA4 100.00 0 No comment
    FBXO32 100.00 0 No comment
    CFH 100.00 0 No comment
    FHL2 100.00 0 No comment
    FHOD3 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNC 100.00 0 No comment
    FLT1 99.53 0 No comment
    FOXD4 100.00 0 No comment
    FXN 89.89 0 No comment
    GAA 100.00 0 No comment
    GATA4 80.69 0 No comment
    GATA5 97.28 0 No comment
    GATA6 81.11 0 No comment
    GATAD1 88.18 0 No comment
    GLA 100.00 0 No comment
    GTPBP3 100.00 0 No comment
    HACD1 95.46 0 No comment
    HADHB 100.00 0 No comment
    HAND1 100.00 0 No comment
    HCN4 92.35 0 No comment
    HIF1A 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSPB6 99.65 0 No comment
    HSPB7 100.00 0 No comment
    ILK 100.00 0 No comment
    INS-IGF2 99.94 0 No comment
    ISL1 100.00 0 No comment
    JPH2 95.10 0 No comment
    JUP 100.00 0 No comment
    KARS1 100.00 0 No comment
    KAT2B 94.80 0 No comment
    KCND2 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNH2 94.44 0 No comment
    KCNJ12 100.00 0 No comment
    KCNQ1 91.07 0 No comment
    KIF20A 100.00 0 No comment
    KLF10 100.00 0 No comment
    LAMA2 100.00 0 No comment
    LAMA4 100.00 0 No comment
    LAMP2 100.00 0 No comment
    LDB3 100.00 0 No comment
    LMNA 99.93 0 No comment
    LRRC10 100.00 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MIB1 100.00 0 No comment
    MIB2 99.31 0 No comment
    MRPL3 100.00 0 No comment
    MRPL44 100.00 0 No comment
    MTO1 95.75 0 No comment
    MYBPC3 100.00 0 No comment
    MYH15 100.00 0 No comment
    MYH6 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH7B 99.96 0 No comment
    MYL2 100.00 0 No comment
    MYL3 100.00 0 No comment
    MYLK2 100.00 0 No comment
    MYO6 100.00 0 No comment
    MYOM1 100.00 0 No comment
    MYOM3 100.00 0 No comment
    MYOZ1 100.00 0 No comment
    MYOZ2 100.00 0 No comment
    MYPN 100.00 0 No comment
    NAA10 96.03 0 No comment
    NCOA6 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFV2 100.00 0 No comment
    NEB 99.99 0 No comment
    NEBL 100.00 0 No comment
    NEXN 100.00 0 No comment
    NKX2-5 100.00 0 No comment
    NPPA 100.00 0 No comment
    NRAP 100.00 0 No comment
    OBSCN 99.26 0 No comment
    OBSL1 98.31 0 No comment
    MED12 100.00 0 No comment
    PDLIM3 100.00 0 No comment
    PKP2 99.87 0 No comment
    PLEC 99.82 0 No comment
    PLEKHM2 99.60 0 No comment
    PLN 100.00 0 No comment
    PPCS 100.00 0 No comment
    PRDM16 100.00 0 No comment
    PRKAG2 95.88 0 No comment
    PRNP 100.00 0 No comment
    PSEN1 100.00 0 No comment
    PSEN2 100.00 0 No comment
    PTEN 98.86 0 No comment
    PTPN11 98.80 0 No comment
    RAF1 100.00 0 No comment
    RANGRF 100.00 0 No comment
    RBM20 99.82 0 No comment
    RIT1 100.00 0 No comment
    RPSA 97.87 0 No comment
    RRAGC 99.99 0 No comment
    RTKN2 100.00 0 No comment
    RYR2 100.00 0 No comment
    S100A1 100.00 0 No comment
    SCN4B 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SDHA 98.02 0 No comment
    SGCB 94.58 0 No comment
    SGCD 100.00 0 No comment
    SGCG 100.00 0 No comment
    SGK1 99.99 0 No comment
    SHOC2 100.00 0 No comment
    SLC12A1 100.00 0 No comment
    SLC22A5 100.00 0 No comment
    SLC25A3 100.00 0 No comment
    SLC25A4 99.09 0 No comment
    SMC1A 100.00 0 No comment
    SNTA1 84.25 0 No comment
    SOD2 100.00 0 No comment
    SOS1 100.00 0 No comment
    SYNE1 100.00 0 No comment
    SYNE2 100.00 0 No comment
    SYNM 92.59 0 No comment
    TAF1A 100.00 0 No comment
    TAX1BP3 100.00 0 No comment
    WWTR1 99.81 0 No comment
    TBX20 100.00 0 No comment
    TBX5 100.00 0 No comment
    TCAP 100.00 0 No comment
    TCF21 100.00 0 No comment
    TGFB3 100.00 0 No comment
    TJP1 99.14 0 No comment
    TK2 95.90 0 No comment
    TMED4 100.00 0 No comment
    TMEM43 100.00 0 No comment
    TMEM87B 99.37 0 No comment
    TMPO 99.87 0 No comment
    TNNI3 100.00 0 No comment
    TNNI3K 100.00 0 No comment
    TNNT2 100.00 0 No comment
    TNNT3 100.00 0 No comment
    TPM1 99.98 0 No comment
    TRIM54 99.66 0 No comment
    TRIM55 100.00 0 No comment
    TRIM63 100.00 0 No comment
    TRPM4 100.00 0 No comment
    TSFM 93.22 0 No comment
    TTN 100.00 0 No comment
    TTR 100.00 0 No comment
    TXNRD2 96.90 0 No comment
    VCL 100.00 0 No comment
    VEGFA 98.73 0 No comment
    YWHAE 98.69 0 No comment
    ZBTB17 100.00 0 No comment
  • Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACBD5 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ACTB 99.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ACTG1 99.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALG9 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALX1 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALX3 94.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    AMER1 99.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ANKRD11 97.83 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARCN1 95.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARHGAP29 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARHGAP31 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ASXL1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ATR 98.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ATRX 95.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GALT6 73.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GLCT 95.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GAT3 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B4GALT7 93.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BCOR 97.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BMP2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BMP4 98.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BUB1B 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    C2CD3 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CPLANE1 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CANT1 98.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CASK 95.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CC2D2A 98.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDC45 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDH1 96.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDKN1C 84.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHD1 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHD7 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHRNG 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHST14 97.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHSY1 93.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CKAP2L 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL11A1 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL11A2 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL2A1 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A1 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A2 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A3 94.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COLEC10 98.49 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COLEC11 99.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CTCF 98.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CTNND1 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DDX3X 94.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DDX59 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DHCR7 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DHODH 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DIS3L2 98.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLG1 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLL4 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLX4 98.90 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DNMT3B 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DOCK6 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DVL1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DVL3 98.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2H1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2LI1 98.39 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EBP 98.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EDN1 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EDNRA 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EFNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EFTUD2 97.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EIF2S3 97.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EIF4A3 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EOGT 89.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EPG5 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SELENOI 98.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ESCO2 97.31 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ESRP2 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EYA1 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FAM111A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FAM20C 95.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FANCL 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FBXO11 97.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGD1 95.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGFR1 98.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGFR2 99.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FLNA 98.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FLNB 98.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXC2 91.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXE1 85.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXP2 98.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FRAS1 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FREM2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FTO 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GATA3 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GATA6 89.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GDF1 74.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GJA1 99.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GLI3 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GMNN 96.00 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GNAI3 97.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GPC3 95.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GRHL3 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GRIP1 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GYPE 96.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HDAC8 97.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HOXA2 98.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HYLS1 99.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CILK1 98.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT140 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT172 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT52 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT80 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BPNT2 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    INTS1 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IRF6 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KANSL1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KAT6A 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KAT6B 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KCNJ2 99.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KDM1A 97.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KDM6A 94.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WASHC5 98.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIAA0586 93.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIFBP 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIF22 98.55 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIF7 95.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KMT2D 99.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    LMNA 98.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    LMX1B 99.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MAP3K7 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MAPRE2 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MASP1 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MBTPS2 97.08 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED12 97.56 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED13L 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED25 97.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MEIS2 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MEOX1 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    METTL23 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MID1 97.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MKS1 98.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MSX1 97.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NBN 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NEDD4L 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NEK1 98.70 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NIPBL 98.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NOTCH1 98.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NSDHL 98.23 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    OFD1 92.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PAX3 99.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PGAP2 99.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PGM1 97.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PHF8 97.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PHGDH 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIEZO2 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGA 95.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGL 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGN 97.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGV 99.40 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIK3R2 91.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLCB4 98.47 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLEKHA5 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLEKHA7 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1A 98.85 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1C 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1D 94.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POMT1 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POMT2 98.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PORCN 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PQBP1 97.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PSAT1 99.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PTCH1 97.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PTDSS1 99.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NECTIN1 99.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RAI1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RARB 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBM10 96.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBM8A 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBPJ 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ROR2 97.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPL11 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPL5 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS17 23.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS19 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS26 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS28 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RSPO2 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RYR1 97.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SALL4 99.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SATB2 99.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SCARF2 92.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SEC23A 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SF3B4 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SHH 96.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX3 97.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX5 95.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SKI 94.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SLC26A2 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD2 98.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD3 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD4 98.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMC1A 97.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMC3 98.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMG9 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMOC1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMS 92.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SNRPB 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SON 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SOX2 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SOX9 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SPECC1L 99.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STAMBP 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STIL 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STRA6 98.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STXBP1 99.15 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SUMO1 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX1 78.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX15 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX22 98.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TCOF1 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TCTN3 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TELO2 98.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TFAP2A 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TFAP2B 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGDS 98.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFB2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFB3 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFBR1 94.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFBR2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TMCO1 94.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MYMK 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TP63 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TRAPPC9 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TRIM37 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TSR2 93.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TTC21B 98.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TUBB 99.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TWIST2 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TXNL4A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    UBB 99.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    UQCC2 99.28 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    USP9X 95.07 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    VAX1 87.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WDR19 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2I2 98.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WDR35 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2I1 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WNT3 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WNT5A 98.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    XYLT1 89.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    YAP1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZBTB24 99.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZEB2 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZIC2 87.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZIC3 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZMPSTE24 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZSWIM6 88.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  • Congenital heart disease (29 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANK3 0.00 0 No value for column 2
    BMPR2 0.00 0 No value for column 2
    BRAF 0.00 0 No value for column 2
    CFC1 0.00 0 No value for column 2
    CITED2 0.00 0 No value for column 2
    CRELD1 0.00 0 No value for column 2
    GATA4 0.00 0 No value for column 2
    GATA5 0.00 0 No value for column 2
    GATA6 0.00 0 No value for column 2
    GDF1 0.00 0 No value for column 2
    GJA1 0.00 0 No value for column 2
    HAND1 0.00 0 No value for column 2
    HAND2 0.00 0 No value for column 2
    JAG1 0.00 0 No value for column 2
    KRAS 0.00 0 No value for column 2
    MAP2K1 0.00 0 No value for column 2
    MAP2K2 0.00 0 No value for column 2
    MED13L 0.00 0 No value for column 2
    NKX2-5 0.00 0 No value for column 2
    NKX2-6 0.00 0 No value for column 2
    PRKAG2 0.00 0 No value for column 2
    PRKAR1A 0.00 0 No value for column 2
    SMAD3 0.00 0 No value for column 2
    TBX1 0.00 0 No value for column 2
    TBX20 0.00 0 No value for column 2
    TBX3 0.00 0 No value for column 2
    TBX5 0.00 0 No value for column 2
    TLL1 0.00 0 No value for column 2
    ZFPM2 0.00 0 No value for column 2
  • RASopathy - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    BRAF 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    CBL 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    HRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    KRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    LZTR1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    MAP2K1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    MAP2K2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    MRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    NRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    PPP1CB 95.00 0 core gene +% of coding sequence represents the minimum CS1 interpretable range
    PTPN11 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    RAF1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    RASA1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    RASA2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    RIT1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    RRAS 80.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    RRAS2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    SHOC2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    SOS1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    SOS2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
  • Short Stature (46 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 90.00 1 NM_001369268.1
    ANKRD11 100.00 1 NM_013275.6
    BRAF 100.00 1 NM_001354609.2
    BTK 100.00 1 NM_000061.3
    CBL 100.00 1 NM_005188.4
    CCDC8 100.00 1 NM_032040.5
    CREBBP 100.00 1 NM_004380.3
    CUL7 100.00 1 NM_014780.5
    DHCR7 100.00 1 NM_001360.3
    DVL1 100.00 1 NM_001330311.2
    EP300 100.00 1 NM_001429.4
    FGD1 100.00 1 NM_004463.3
    FGFR3 100.00 1 NM_001163213.1
    GH1 100.00 1 NM_000515.5
    GHR 100.00 1 NM_000163.5
    GHRHR 100.00 1 NM_000823.4
    GHSR 100.00 1 NM_198407.2
    HRAS 100.00 1 NM_005343.4
    IGF1 100.00 1 NM_000618.5
    IGF1R 100.00 1 NM_000875.5
    IGF2 100.00 1 NM_000612.6
    IGFALS 100.00 1 NM_004970.3
    KDM6A 100.00 1 NM_001291415.2
    KMT2D 100.00 1 NM_003482.3
    KRAS 100.00 1 NM_033360.4
    NPPC 100.00 1 NM_024409.4
    NPR2 100.00 1 NM_003995.3
    NPR3 100.00 1 NM_001204375.2
    NRAS 100.00 1 NM_002524.5
    OBSL1 100.00 1 NM_015311.3
    PIK3R1 100.00 1 NM_181523.3
    POU1F1 100.00 1 NM_000306.4
    PTPN11 100.00 1 NM_002834.5
    RAF1 100.00 1 NM_001354689.3
    RASA2 100.00 1 NM_006506.5
    RIT1 100.00 1 NM_006912.6
    ROR2 100.00 1 NM_004560.4
    RPS6KA3 100.00 1 NM_004586.3
    SHOC2 100.00 1 NM_007373.4
    SHOX 100.00 1 NM_000451.3
    SOS1 100.00 1 NM_005633.3
    SOX3 100.00 1 NM_005634.2
    SRCAP 100.00 1 NM_006662.3
    STAT5B 100.00 1 NM_012448.4
    TRIM37 100.00 1 NM_015294.6
    WNT5A 100.00 1 NM_003392.4