1. Analytes
  2. NF2

NF2

Analyte Export to PDF
Name:
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Symbol:
NF2
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
ACN
BANF
Merlin
SCH
bilateral acoustic neurofibromatosis
merlin
merlin-1
moesin-ezrin-radixin like
schwannomin
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Ataxia Spasticity - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 99.88 1
    AARS1 99.99 1
    ABCA2 100.00 1
    ABCB7 99.58 1
    ABCD1 99.98 1
    ABHD12 99.98 1
    ACO2 99.99 1
    ADAR 99.84 1
    ADGRG1 99.90 1
    ADPRS 99.94 1
    AFG3L2 99.97 1
    AGTPBP1 99.68 1
    AHI1 99.86 1
    AIFM1 99.92 1
    AIMP1 99.97 1
    ALDH18A1 99.96 1
    ALDH5A1 96.19 1
    ALG6 93.37 1
    ALS2 99.87 1
    AMPD2 99.91 1
    ANO10 99.93 1
    AP4B1 96.92 1
    AP4E1 99.94 1
    AP4M1 99.98 1
    AP4S1 87.89 1
    AP5Z1 100.00 1
    APOB 99.99 1
    APTX 99.92 1
    ARG1 99.95 1
    ARL13B 99.53 1
    ARL6IP1 99.51 1
    ARSA 99.99 1
    ARSI 100.00 1
    ARX 95.36 1
    ASPA 99.98 1
    ATCAY 100.00 1
    ATG5 99.81 1
    ATL1 99.95 1
    ATM 99.83 1
    ATP13A2 99.96 1
    ATP1A3 99.98 1
    ATP2B3 99.98 1
    ATP7B 100.00 1
    ATP8A2 100.00 1
    AUH 99.95 1
    B4GALNT1 99.97 1
    BCKDHA 99.97 1
    BCKDHB 99.73 1
    BCL11B 100.00 1
    BCS1L 99.99 1
    BICD2 99.99 1
    BSCL2 99.99 1
    BTD 100.00 1
    C19ORF12 99.99 1
    CA8 99.71 1
    CACNA1A 98.16 1
    CACNA1E 99.82 1
    CACNA1G 99.95 1
    CACNB4 99.20 1
    CAMTA1 99.97 1
    CAPN1 99.99 1
    CC2D2A 99.95 1
    CCDC88C 100.00 1
    CCT5 99.99 1
    CDK16 99.99 1
    CEP290 98.10 1
    CHP1 99.90 1
    CLCN2 100.00 1
    CNTNAP1 99.98 1
    COA7 99.91 1
    COQ2 99.90 1
    COQ4 100.00 1
    COQ8A 100.00 1
    COQ9 99.62 1
    COX10 99.99 1
    COX15 100.00 1
    COX20 99.67 1
    CP 99.95 1
    CPT1C 99.99 1
    CSTB 100.00 1
    CTBP1 99.98 1
    CWF19L1 99.91 1
    CYP27A1 100.00 1
    CYP2U1 99.99 1
    CYP7B1 99.82 1
    DAB1 97.87 1
    DARS1 98.85 1
    DARS2 98.31 1
    DBT 94.51 1
    DDHD1 99.93 1
    DDHD2 99.97 1
    DDX3X 99.01 1
    DEGS1 99.99 1
    DLAT 99.65 1
    DLD 99.89 1
    DNAJC19 99.76 1
    DNAJC3 99.92 1
    DNAJC5 99.99 1
    DNMT1 99.13 1
    DOCK3 99.96 1
    EARS2 99.96 1
    EBF3 99.99 1
    ECHS1 100.00 1
    EEF2 99.95 1
    EIF2AK1 99.90 1
    ELOVL1 100.00 1
    ELOVL4 99.91 1
    ELOVL5 99.87 1
    EMC1 99.85 1
    ENTPD1 99.98 1
    EPM2A 99.99 1
    ERCC1 99.96 1
    ERCC4 99.92 1
    ERCC8 99.79 1
    ERLIN1 99.98 1
    ERLIN2 99.94 1
    EXOSC3 100.00 1
    FA2H 99.98 1
    FARS2 100.00 1
    FASTKD2 99.93 1
    FAT2 99.99 1
    FGF14 99.99 1
    FITM2 99.99 1
    FLRT1 100.00 1
    FLVCR1 99.91 1
    FOLR1 100.00 1
    FRMD4A 100.00 1
    FRMD7 99.97 1
    GALC 99.92 1
    GAN 99.98 1
    GBA2 99.99 1
    GBE1 99.73 1
    GDAP2 95.02 1
    GFAP 99.99 1
    GFM2 99.87 1
    GJC2 100.00 1
    GLB1 100.00 1
    GLRX5 100.00 1
    GLS 99.78 1
    GM2A 100.00 1
    GOSR2 98.92 1
    GPR143 99.60 1
    GRID2 99.97 1
    GRIN1 100.00 1
    GRM1 100.00 1
    GRN 100.00 1
    GSX2 100.00 1
    HACE1 99.76 1
    HEXA 99.99 1
    HEXB 99.91 1
    HSD17B10 99.98 1
    HSD17B4 99.71 1
    HSPD1 83.42 1
    IBA57 100.00 1
    IFIH1 99.84 1
    IFRD1 99.67 1
    IFT140 100.00 1
    INTS8 99.89 1
    IRF2BPL 99.21 1
    ISCA1 99.79 1
    ITM2B 99.85 1
    ITPR1 99.98 1
    JAM2 91.82 1
    KANK1 99.99 1
    KCNA1 100.00 1
    KCNA2 99.99 1
    KCNA4 100.00 1
    KCNC3 99.98 1
    KCND3 99.98 1
    KCNJ10 99.98 1
    KCNJ6 100.00 1
    KCNMA1 99.89 1
    KCNQ2 100.00 1
    KCTD7 99.98 1
    KIDINS220 99.94 1
    KIF1A 99.96 1
    KIF1C 99.99 1
    KIF5A 99.91 1
    KLC2 100.00 1
    L1CAM 99.98 1
    L2HGDH 99.92 1
    LAMA1 99.98 1
    LAMB1 99.87 1
    LIPT2 99.99 1
    LYRM7 99.98 1
    LYST 99.87 1
    ERCC2 99.99 1
    MAN2B1 99.99 1
    MARS1 99.97 1
    MARS2 100.00 1
    MCOLN1 100.00 1
    MECP2 99.95 1
    MLC1 99.99 1
    MMADHC 99.76 1
    MME 97.17 1
    MPV17 99.98 1
    MRE11 99.93 1
    MRPS34 100.00 1
    MSTO1 76.34 1
    MTCL1 100.00 1
    MTPAP 99.97 1
    MTRFR 99.87 1
    MTTP 99.92 1
    MYORG 99.99 1
    NANS 100.00 1
    NDUFA9 100.00 1
    NDUFAF4 99.95 1
    NDUFAF6 99.86 1
    NDUFS1 99.79 1
    NDUFS3 100.00 1
    NDUFS7 99.99 1
    NEFL 100.00 1
    NEU1 99.98 1
    NEXMIF 99.99 1
    NF2 100.00 1
    NHLRC1 100.00 1
    NIPA1 99.91 1
    NKX6-2 100.00 1
    NOL3 100.00 1
    NPC1 99.99 1
    NPC2 100.00 1
    NT5C2 99.96 1
    NTNG2 99.98 1
    NUP93 99.87 1
    NUS1 99.90 1
    OCLN 82.91 1
    OFD1 99.68 1
    MED12 99.95 1
    OPA3 100.00 1
    OPHN1 99.92 1
    OTC 99.42 1
    PARS2 99.99 1
    PODXL 99.99 1
    PCDH12 100.00 1
    PCYT2 100.00 1
    PDHA1 99.04 1
    PDHX 99.64 1
    PDYN 100.00 1
    PEX10 100.00 1
    PEX16 99.94 1
    PEX7 99.72 1
    PGAP1 99.56 1
    PHYH 100.00 1
    PIK3R5 99.99 1
    PLA2G6 99.98 1
    PLAA 99.79 1
    PLD3 99.99 1
    PLP1 99.98 1
    PMM2 99.93 1
    PMPCA 99.99 1
    PMPCB 99.94 1
    PNKP 100.00 1
    PNPLA6 99.99 1
    POLG 100.00 1
    POLR3A 99.97 1
    POLR3B 99.94 1
    PRF1 100.00 1
    PRKCG 99.99 1
    PRNP 100.00 1
    PRPS1 99.95 1
    PRRT2 99.97 1
    PSAP 99.94 1
    PSEN1 100.00 1
    PTPN23 100.00 1
    PTRH2 99.99 1
    PUM1 98.14 1
    RAB11B 100.00 1
    RAB18 99.76 1
    RAB3GAP1 99.73 1
    RAB3GAP2 99.69 1
    REEP1 99.97 1
    REEP2 99.99 1
    RETREG1 99.99 1
    RNASEH2A 99.95 1
    RNASEH2B 99.94 1
    RNASEH2C 99.99 1
    RNF168 99.97 1
    RNF170 99.90 1
    RNF216 99.99 1
    RORA 99.97 1
    RPGRIP1L 96.35 1
    RTN2 99.98 1
    RTN4IP1 99.98 1
    RUBCN 100.00 1
    SACS 99.97 1
    SAMD9L 99.95 1
    SAMHD1 99.98 1
    SARS1 98.53 1
    SCN8A 99.77 1
    SCYL1 100.00 1
    SDHA 99.98 1
    SDHAF1 99.99 1
    SDHD 82.93 1
    SEPSECS 99.78 1
    SETX 99.97 1
    SIL1 99.95 1
    SLC13A5 99.99 1
    SLC16A2 99.97 1
    SLC17A5 99.71 1
    SLC19A3 99.95 1
    SLC1A3 99.98 1
    SLC1A4 99.97 1
    SLC25A15 100.00 1
    SLC25A46 99.88 1
    SLC2A1 99.93 1
    SLC33A1 99.67 1
    SLC44A1 99.90 1
    SLC52A2 100.00 1
    SLC52A3 99.94 1
    SLC6A8 99.99 1
    SLC9A1 99.96 1
    SLC9A6 99.42 1
    SMPD1 100.00 1
    SNAP25 99.89 1
    SNX14 99.73 1
    SOX10 100.00 1
    SPART 99.98 1
    SPAST 99.77 1
    SPG11 99.89 1
    SPG21 99.97 1
    SPG7 99.99 1
    SPR 99.99 1
    SPTAN1 99.96 1
    SPTBN2 99.98 1
    SQSTM1 100.00 1
    SRD5A3 99.94 1
    STUB1 99.99 1
    SUCLA2 99.96 1
    SUOX 100.00 1
    SURF1 100.00 1
    SVBP 99.04 1
    SYNE1 99.95 1
    SYT14 99.94 1
    TANGO2 99.85 1
    TBC1D20 100.00 1
    TDP1 99.97 1
    TDP2 99.97 1
    TECPR2 99.96 1
    TENM3 99.99 1
    TFG 98.68 1
    TGM6 99.99 1
    THG1L 99.99 1
    TMEM216 99.98 1
    TMEM231 88.88 1
    TMEM240 99.99 1
    TMEM67 99.69 1
    TMX2 99.99 1
    ACD 99.99 1
    TRAK1 99.98 1
    TRAPPC12 99.96 1
    TRAPPC4 100.00 1
    TRIT1 99.25 1
    TRPC3 99.97 1
    TSEN2 99.98 1
    TSEN54 100.00 1
    TTBK2 99.93 1
    TTC19 99.99 1
    TTPA 99.88 1
    TUBA1A 99.97 1
    TUBB4A 100.00 1
    TUBG1 99.95 1
    TWNK 100.00 1
    UBA5 99.95 1
    UBAP1 99.51 1
    UBTF 99.99 1
    UCHL1 99.99 1
    UFC1 99.35 1
    UFM1 99.25 1
    UGP2 99.85 1
    USP8 99.67 1
    VAMP1 100.00 1
    VCP 99.99 1
    VLDLR 99.99 1
    VPS13B 99.90 1
    VPS13D 99.96 1
    VPS37A 99.96 1
    VRK1 99.98 1
    VWA3B 98.82 1
    WARS2 97.72 1
    WASHC5 99.98 1
    WDR45B 100.00 1
    WDR48 99.42 1
    WDR73 99.92 1
    WDR81 100.00 1
    WWOX 100.00 1
    XRCC1 99.96 1
    ZC4H2 99.98 1
    ZFR 99.94 1
    ZFYVE26 100.00 1
    ZFYVE27 99.99 1
  • Cataract - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.98 1
    ADAMTSL4 99.66 1
    AGK 99.99 1
    ALDH18A1 99.96 1
    B3GLCT 99.90 1
    BCOR 99.97 1
    BEST1 99.86 1
    BFSP1 100.00 1
    BFSP2 99.09 1
    CHMP4B 99.96 1
    COL11A1 90.72 1
    COL18A1 99.99 1
    COL2A1 99.87 1
    CRYAA 19.49 1
    CRYAB 100.00 1
    CRYBA1 99.99 1
    CRYBA2 100.00 1
    CRYBA4 100.00 1
    CRYBB1 99.46 1
    CRYBB2 99.94 1
    CRYBB3 99.99 1
    CRYGB 99.99 1
    CRYGC 100.00 1
    CRYGD 100.00 1
    CRYGS 100.00 1
    CTDP1 99.97 1
    CYP27A1 100.00 1
    CYP51A1 97.82 1
    DNMBP 99.94 1
    EPG5 99.95 1
    EPHA2 99.99 1
    EYA1 99.81 1
    HYCC1 99.81 1
    FBN1 99.85 1
    FOXE3 99.29 1
    FTL 99.99 1
    FYCO1 100.00 1
    FZD4 100.00 1
    GALK1 100.00 1
    GALT 100.00 1
    GCNT2 100.00 1
    GJA1 100.00 1
    GJA3 100.00 1
    GJA8 99.99 1
    HMX1 100.00 1
    HSF4 99.98 1
    INPP5K 99.94 1
    INTS1 100.00 1
    JAM3 100.00 1
    LCAT 99.97 1
    LEMD2 100.00 1
    LIM2 100.00 1
    LSS 99.98 1
    MAF 99.73 1
    MIPEP 99.98 1
    MIR184 100.00 1
    MYH9 99.95 1
    NDP 99.98 1
    NF2 100.00 1
    NHS 99.96 1
    OCRL 99.89 1
    OPA3 100.00 1
    P3H2 99.93 1
    PANK4 100.00 1
    PAX6 99.95 1
    PITX3 100.00 1
    PXDN 100.00 1
    RRAGA 100.00 1
    SIL1 99.95 1
    SIPA1L3 99.97 1
    SLC16A12 100.00 1
    SLC33A1 99.67 1
    TDRD7 99.87 1
    UNC45B 100.00 1
    VIM 100.00 1
    VSX2 99.99 1
    WFS1 99.99 1
  • Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 100.00 0
    AAGAB 97.88 0
    ABCA12 100.00 0
    ABCB6 100.00 0
    ABCC6 99.97 0
    ABHD5 100.00 0
    ACD 100.00 0
    ADAM10 100.00 0
    ADAMTS2 95.82 0
    ADAR 100.00 0
    AIM1 100.00 0
    AKT1 100.00 0
    ALDH18A1 100.00 0
    ALDH3A2 99.94 0
    ALOX12B 100.00 0
    ALOXE3 100.00 0
    ANTXR1 100.00 0
    AP1S1 100.00 0
    AP3B1 100.00 0
    APCDD1 99.97 0
    AQP5 99.87 0
    ARHGAP31 100.00 0
    ARSL 99.95 0
    ASAH1 100.00 0
    ATM 100.00 0
    ATP2A2 100.00 0
    ATP2C1 100.00 0
    ATP6V0A2 99.98 0
    ATP6V1A 100.00 0
    ATP6V1E1 99.99 0
    ATP7A 100.00 0
    AXIN2 100.00 0
    B3GALT6 63.11 0
    B4GALT7 90.91 0
    BANF1 97.55 0
    BCS1L 100.00 0
    BLM 100.00 0
    BLOC1S3 95.69 0
    BLOC1S6 100.00 0
    BRAF 96.86 0
    LRMDA 100.00 0
    KDF1 100.00 0
    CARD14 99.96 0
    CBL 100.00 0
    CBS 99.92 0
    CD151 99.99 0
    CDH3 100.00 0
    CDK4 100.00 0
    CDKN1B 100.00 0
    CDKN2A 99.69 0
    CDSN 99.93 0
    CERS3 100.00 0
    CHST14 99.81 0
    CHST8 100.00 0
    CHUK 99.59 0
    CLCF1 100.00 0
    CLDN1 100.00 0
    CLDN10 100.00 0
    COG6 100.00 0
    COL11A1 100.00 0
    COL12A1 100.00 0
    COL17A1 100.00 0
    COL1A1 100.00 0
    COL1A2 99.41 0
    COL3A1 99.99 0
    COL5A1 98.23 0
    COL5A2 100.00 0
    COL7A1 100.00 0
    CREBBP 99.98 0
    CRLF1 89.67 0
    CSTA 100.00 0
    CTC1 99.71 0
    CTSC 100.00 0
    CYLD 100.00 0
    CYP26C1 97.30 0
    CYP4F22 99.27 0
    DDB2 100.00 0
    DIP2B 99.71 0
    DKC1 99.92 0
    DLL4 100.00 0
    DLX3 99.95 0
    DNMT1 99.69 0
    DOCK6 99.13 0
    DOLK 100.00 0
    DSC3 98.96 0
    DSE 100.00 0
    DSG1 100.00 0
    DSG2 99.89 0
    DSG4 100.00 0
    DSP 100.00 0
    DST 100.00 0
    DTNBP1 99.96 0
    GLB1 100.00 0
    ECM1 100.00 0
    EDA 99.05 0
    EDAR 100.00 0
    EDARADD 100.00 0
    EDN3 99.95 0
    EDNRB 100.00 0
    EFEMP2 100.00 0
    ELN 99.96 0
    ELOVL4 100.00 0
    ENPP1 97.25 0
    EOGT 100.00 0
    EP300 100.00 0
    EPG5 99.99 0
    ERCC2 99.35 0
    ERCC3 100.00 0
    ERCC4 99.99 0
    ERCC5 100.00 0
    ERCC6 100.00 0
    ERCC8 100.00 0
    EVC 94.53 0
    EVC2 98.69 0
    EXPH5 100.00 0
    F12 99.81 0
    FAM111B 100.00 0
    RETREG1 93.87 0
    FAM83G 100.00 0
    FBLN5 100.00 0
    FBN1 100.00 0
    FBN2 100.00 0
    FERMT1 99.96 0
    FGFR2 100.00 0
    FGFR3 99.36 0
    FH 100.00 0
    FKBP14 100.00 0
    FLCN 100.00 0
    FGFR1 100.00 0
    FLG2 100.00 0
    FOXN1 100.00 0
    FZD6 100.00 0
    GALNT3 100.00 0
    GAN 98.95 0
    GBA1 100.00 0
    GGCX 99.91 0
    GHR 99.21 0
    GJA1 100.00 0
    GJB2 100.00 0
    GJB3 100.00 0
    GJB4 100.00 0
    GJB6 100.00 0
    GLA 100.00 0
    GNAS 100.00 0
    GORAB 100.00 0
    GPR143 89.17 0
    GRHL2 100.00 0
    GSN 97.95 0
    GTF2E2 100.00 0
    GTF2H5 100.00 0
    HAMP 100.00 0
    HCCS 100.00 0
    HDAC8 99.82 0
    HFE 100.00 0
    HJV 100.00 0
    HGD 100.00 0
    HLCS 100.00 0
    HOXC13 96.56 0
    HPGD 99.87 0
    HPS1 100.00 0
    HPS3 99.99 0
    HPS4 99.99 0
    HPS5 100.00 0
    HPS6 96.32 0
    HR 99.78 0
    HRAS 100.00 0
    IFT122 99.99 0
    IFT43 100.00 0
    ELP1 100.00 0
    IKBKG 96.27 0
    IL31RA 100.00 0
    INSR 96.81 0
    ITGA3 99.99 0
    ITGA6 100.00 0
    ITGB4 98.77 0
    JUP 100.00 0
    KANK2 99.99 0
    KCNH1 100.00 0
    KCTD1 100.00 0
    KDM6A 99.63 0
    KDSR 99.98 0
    KIF1A 99.07 0
    KIT 99.98 0
    KITLG 100.00 0
    KL 96.52 0
    KLHL24 100.00 0
    KLLN 100.00 0
    KMT2D 99.99 0
    KRAS 100.00 0
    KREMEN1 92.10 0
    KRT1 99.80 0
    KRT10 99.93 0
    KRT14 100.00 0
    KRT16 99.48 0
    KRT17 92.10 0
    KRT2 100.00 0
    KRT5 100.00 0
    KRT6A 100.00 0
    KRT6B 100.00 0
    KRT6C 99.44 0
    KRT71 99.95 0
    KRT74 99.99 0
    KRT81 100.00 0
    KRT83 99.99 0
    KRT85 99.27 0
    KRT86 99.98 0
    KRT9 100.00 0
    LAMA4 99.75 0
    LAMB3 100.00 0
    LAMC2 99.43 0
    LEMD3 99.97 0
    LIPH 100.00 0
    LIPN 100.00 0
    LMNA 99.52 0
    LMX1B 99.55 0
    LORICRIN 100.00 0
    LPAR6 100.00 0
    LRP1 100.00 0
    LTBP4 99.49 0
    LYST 100.00 0
    LZTR1 99.92 0
    MAP2K1 100.00 0
    MAP2K2 99.99 0
    MAPRE2 100.00 0
    MBTPS2 100.00 0
    MC1R 100.00 0
    MEN1 99.83 0
    MITF 100.00 0
    MLH1 99.99 0
    MLPH 100.00 0
    MMP1 99.99 0
    MMP2 99.93 0
    MPDU1 100.00 0
    MPLKIP 100.00 0
    MSH2 100.00 0
    MSH6 99.92 0
    MSMO1 100.00 0
    MSX1 99.53 0
    MUTYH 100.00 0
    MYO5A 99.78 0
    NF1 98.85 0
    NF2 99.97 0
    NFKBIA 99.97 0
    NGF 100.00 0
    NHP2 100.00 0
    NIPAL4 100.00 0
    NIPBL 99.62 0
    RMRP 100.00 0
    NOP10 100.00 0
    NOTCH1 98.81 0
    NRAS 100.00 0
    NSDHL 100.00 0
    NTRK1 98.91 0
    OCA2 99.73 0
    OFD1 97.68 0
    ORAI1 93.55 0
    OSMR 100.00 0
    PADI3 100.00 0
    PARN 100.00 0
    PAX3 100.00 0
    PDGFRB 100.00 0
    PEX7 96.12 0
    PHYH 99.87 0
    PIGL 100.00 0
    PIK3CA 100.00 0
    PKP1 100.00 0
    PLCD1 99.74 0
    PLEC 99.33 0
    PLOD1 98.77 0
    PLOD3 99.97 0
    PMS2 98.83 0
    PNPLA1 99.66 0
    POFUT1 99.99 0
    POGLUT1 100.00 0
    POLD1 99.84 0
    POLH 100.00 0
    NT5C3A 100.00 0
    PORCN 99.13 0
    PPP1CB 100.00 0
    PRDM12 83.27 0
    PRDM5 100.00 0
    PRKAR1A 100.00 0
    PRKD1 97.12 0
    PSAT1 99.73 0
    PSENEN 100.00 0
    PTCH1 99.03 0
    PTCH2 100.00 0
    PTDSS1 100.00 0
    PTEN 99.64 0
    PTPN11 94.81 0
    NECTIN1 99.68 0
    NECTIN4 99.41 0
    PYCR1 100.00 0
    RAB27A 100.00 0
    RAD21 100.00 0
    RAF1 100.00 0
    RASA2 99.74 0
    RBPJ 99.69 0
    RECQL4 96.90 0
    RET 96.88 0
    RHBDF2 100.00 0
    RIN2 100.00 0
    RIPK4 99.98 0
    RIT1 100.00 0
    RNF113A 100.00 0
    RPL21 84.30 0
    RRAS 98.63 0
    RSPO1 100.00 0
    RTEL1 100.00 0
    SASH1 99.88 0
    SCN11A 99.99 0
    SCN9A 99.99 0
    SDHB 99.35 0
    SDHD 99.95 0
    SEC23B 100.00 0
    SERPINB7 100.00 0
    SERPINB8 100.00 0
    SERPING1 97.68 0
    SETBP1 100.00 0
    SGPL1 100.00 0
    SHOC2 100.00 0
    HHAT 93.18 0
    SKIC2 100.00 0
    SLC24A5 100.00 0
    SLC27A4 99.97 0
    SLC29A3 95.73 0
    SLC2A10 97.06 0
    SLC39A13 100.00 0
    SLC39A4 100.00 0
    SLC45A2 100.00 0
    SLC6A19 99.99 0
    SLURP1 100.00 0
    SMAD3 100.00 0
    SMARCAD1 99.97 0
    SMARCB1 100.00 0
    SMC3 100.00 0
    SMPD1 100.00 0
    SNAI2 100.00 0
    SNAP29 100.00 0
    SNRPE 99.04 0
    SOS1 100.00 0
    SOS2 99.97 0
    SOX10 97.31 0
    SPINK5 100.00 0
    SPRED1 100.00 0
    SPRY1 100.00 0
    SPTLC1 99.44 0
    SRD5A3 98.97 0
    ST14 99.95 0
    STK11 99.81 0
    STS 99.94 0
    SUFU 100.00 0
    SULT2B1 100.00 0
    SUMF1 100.00 0
    TAT 100.00 0
    TCHH 100.00 0
    TERT 93.51 0
    TFR2 100.00 0
    TGFB2 99.97 0
    TGFB3 100.00 0
    TGFBR1 91.97 0
    TGFBR2 100.00 0
    TGM1 100.00 0
    TGM3 100.00 0
    TGM5 100.00 0
    TINF2 99.96 0
    TMC6 99.87 0
    TNXB 100.00 0
    TP63 100.00 0
    TRPS1 100.00 0
    TRPV3 99.99 0
    TSC1 100.00 0
    TSC2 99.99 0
    SKIC3 99.99 0
    TUBB 100.00 0
    TWIST2 99.15 0
    TYR 100.00 0
    TYRP1 100.00 0
    UBR1 100.00 0
    USB1 100.00 0
    UVSSA 100.00 0
    VPS33B 100.00 0
    WDR19 100.00 0
    WDR35 100.00 0
    WNK1 100.00 0
    WNT10A 94.15 0
    WRAP53 100.00 0
    WRN 100.00 0
    XPA 97.89 0
    XPC 100.00 0
    ZMPSTE24 100.00 0
    ZNF469 99.97 0
    ZNF750 100.00 0
    TERC 100.00 0 t
  • Maffucci syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • Meningioma (3 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    NF2 100.00 1
    SMARCB1 100.00 1
    SUFU 100.00 1
  • Overgrowth & vascular anomalies (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • Pediatric oncopredisposition - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 99.97 1
    ABCB11 99.86 1
    ACD 100.00 1
    AIP 99.99 1
    ALK 99.93 1
    APC 99.97 1
    ASXL1 100.00 1
    ATM 99.83 1
    RNF2 99.99 1
    BLM 99.80 1
    BMPR1A 99.58 1
    BRAF 99.78 1
    BRCA1 98.33 1
    BRCA2 99.99 1
    BRIP1 99.39 1
    BUB1B 100.00 1
    CBL 99.95 1
    CD27 99.95 1
    CD70 99.99 1
    CDC73 99.60 1
    CDH1 99.98 1
    CDK4 100.00 1
    CDKN1B 100.00 1
    CDKN1C 100.00 1
    CDKN2A 100.00 1
    CEBPA 100.00 1
    CEP57 99.92 1
    CREBBP 99.97 1
    CTC1 100.00 1
    CTLA4 99.99 1
    CTR9 99.98 1
    DDB2 100.00 1
    DICER1 99.96 1
    DIS3L2 99.90 1
    DKC1 99.59 1
    DNAJC21 99.67 1
    EFL1 99.83 1
    EGLN1 99.86 1
    EGLN2 99.97 1
    ELP1 99.96 1
    EPAS1 99.99 1
    EPCAM 99.89 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC4 99.92 1
    ERCC5 99.99 1
    ERCC6L2 99.94 1
    ETV6 99.99 1
    EZH2 99.89 1
    FANCA 100.00 1
    FANCB 99.24 1
    FANCC 99.98 1
    FANCD2 99.86 1
    FANCE 99.99 1
    FANCF 100.00 1
    FANCG 100.00 1
    FANCI 99.96 1
    FANCL 99.67 1
    FAS 99.99 1
    FBXW7 99.90 1
    FH 99.95 1
    GATA1 99.97 1
    GATA2 99.99 1
    GPC3 99.60 1
    GPC4 99.89 1
    GPR161 99.92 1
    HAVCR2 99.93 1
    HRAS 100.00 1
    IKZF1 99.92 1
    ITK 99.91 1
    KRAS 99.13 1
    L2HGDH 99.92 1
    LIG4 100.00 1
    LZTR1 99.46 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAX 99.96 1
    MDH2 99.54 1
    MDM4 99.43 1
    MEN1 99.98 1
    MLH1 99.64 1
    MRAS 99.97 1
    MSH2 99.23 1
    MSH6 99.97 1
    MYSM1 94.16 1
    NBN 99.93 1
    NF1 99.88 1
    NF2 100.00 1
    NHP2 99.96 1
    NOP10 99.99 1
    NRAS 99.66 1
    NSD1 99.98 1
    PALB2 99.71 1
    PARN 99.75 1
    PAX5 99.82 1
    PHOX2B 99.98 1
    PIK3CA 99.74 1
    PMS2 70.47 1
    POLD1 99.96 1
    POLE 99.99 1
    POLH 99.85 1
    POT1 99.91 1
    PPP1CB 99.89 1
    PRF1 100.00 1
    PRKAR1A 100.00 1
    PTCH1 99.99 1
    PTEN 99.89 1
    PTPN11 99.98 1
    RAF1 99.97 1
    RB1 99.84 1
    RECQL4 100.00 1
    REST 99.99 1
    RET 99.97 1
    RIT1 99.78 1
    RMRP 100.00 1
    RPL11 99.81 1
    RPL15 31.77 1
    RPL18 100.00 1
    RPL26 30.55 1
    RPL27 99.83 1
    RPL35 99.99 1
    RPL35A 97.55 1
    RPL5 28.81 1
    RPS10 0.00 1
    RPS15A 22.14 1
    RPS17 100.00 1
    RPS19 100.00 1
    RPS24 91.48 1
    RPS26 8.99 1
    RPS27 27.45 1
    RPS28 100.00 1
    RPS29 99.96 1
    RPS7 88.50 1
    RRAS 99.98 1
    RRAS2 99.94 1
    RTEL1 100.00 1
    RUNX1 100.00 1
    SAMD9 99.93 1
    SAMD9L 99.95 1
    SBDS 99.93 1
    SDHA 99.98 1
    SDHAF2 99.96 1
    SDHB 97.32 1
    SDHC 99.67 1
    SDHD 82.93 1
    SETBP1 100.00 1
    SH2D1A 98.98 1
    SHOC2 99.96 1
    SLX4 100.00 1
    SMARCA4 99.99 1
    SMARCB1 99.99 1
    SMARCE1 99.87 1
    SOS1 99.68 1
    SOS2 99.39 1
    SRP72 99.91 1
    STK11 100.00 1
    SUFU 100.00 1
    TERC 98.59 1
    TERT 100.00 1
    TINF2 100.00 1
    TMEM127 99.99 1
    TP53 99.98 1
    TRIM28 100.00 1
    TRIM37 98.19 1
    TRIP13 100.00 1
    TSC1 99.99 1
    TSC2 99.98 1
    TSR2 99.96 1
    UBE2T 99.89 1
    USB1 89.62 1
    VHL 100.00 1
    WAS 99.90 1
    WRAP53 100.00 1
    WT1 99.99 1
    XPA 99.68 1
    XPC 99.98 1
    SRP54 99.90 1
  • Rare epilepsy with developmental delay (> 240 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 No comment
    ABAT 100.00 0 No comment
    ACTB 99.92 0 No comment
    ACTG1 100.00 0 No comment
    ACTL6B 99.16 0 No comment
    ACY1 99.96 0 No comment
    ADAR 99.99 0 No comment
    ADPRS 91.11 0 No comment
    ADSL 99.73 0 No comment
    AFG3L2 95.23 0 No comment
    ALDH7A1 99.83 0 No comment
    ALG11 100.00 0 No comment
    ALG13 95.29 0 No comment
    AMT 100.00 0 No comment
    ANKRD11 99.99 0 No comment
    AP3B2 97.74 0 No comment
    AP4S1 87.73 0 No comment
    ARFGEF2 99.81 0 No comment
    ARHGEF9 99.89 0 No comment
    ARID1B 87.88 0 No comment
    ARV1 89.03 0 No comment
    ARX 59.32 0 No comment
    ASXL3 99.74 0 No comment
    ATN1 99.12 0 No comment
    ATP1A2 99.88 0 No comment
    ATP1A3 99.81 0 No comment
    BRAT1 99.96 0 No comment
    BSCL2 100.00 0 No comment
    CACNA1A 92.18 0 No comment
    CACNA1B 93.35 0 No comment
    CACNA1E 99.99 0 No comment
    CACNA1G 99.63 0 No comment
    CACNA2D2 94.11 0 No comment
    CASK 99.78 0 No comment
    CDK13 88.47 0 No comment
    CDKL5 97.71 0 No comment
    CERS1 76.68 0 No comment
    CERT1 99.89 0 No comment
    CHD2 99.95 0 No comment
    CLCN4 99.94 0 No comment
    CLN3 99.98 0 No comment
    CLN5 97.84 0 No comment
    CLN6 91.00 0 No comment
    CLN8 100.00 0 No comment
    CLTC 100.00 0 No comment
    CNKSR2 99.28 0 No comment
    CNTNAP2 99.99 0 No comment
    COL18A1 96.27 0 No comment
    COL4A1 98.54 0 No comment
    CPLX1 99.70 0 No comment
    CPT2 97.07 0 No comment
    CSNK2B 100.00 0 No comment
    CSTB 92.54 0 No comment
    CTSD 97.90 0 No comment
    CUX2 98.72 0 No comment
    CYFIP2 99.99 0 No comment
    DCX 99.86 0 No comment
    DDX3X 99.66 0 No comment
    DENND5A 98.99 0 No comment
    DEPDC5 99.97 0 No comment
    DHDDS 99.77 0 No comment
    DMXL2 99.86 0 No comment
    DNM1 94.54 0 No comment
    DNM1L 99.97 0 No comment
    DOCK7 99.35 0 No comment
    DYRK1A 100.00 0 No comment
    EEF1A2 91.59 0 No comment
    EHMT1 98.44 0 No comment
    EPM2A 81.75 0 No comment
    FARS2 99.99 0 No comment
    FGF12 100.00 0 No comment
    FLNA 99.50 0 No comment
    FMN2 92.71 0 No comment
    FMR1 99.71 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 75.13 0 No comment
    FRRS1L 69.11 0 No comment
    FZR1 100.00 0 No comment
    GABBR2 95.14 0 No comment
    GABRA1 100.00 0 No comment
    GABRA2 100.00 0 No comment
    GABRB1 100.00 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 98.87 0 No comment
    GABRG2 92.15 0 No comment
    GAD1 100.00 0 No comment
    GAMT 95.00 0 No comment
    GBA1 100.00 0 No comment
    GLDC 96.06 0 No comment
    GNAO1 100.00 0 No comment
    GNB1 100.00 0 No comment
    GNB5 99.70 0 No comment
    GOSR2 99.87 0 No comment
    GPHN 100.00 0 No comment
    GRIA2 100.00 0 No comment
    GRIA3 97.93 0 No comment
    GRIK2 99.97 0 No comment
    GRIN1 99.74 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRIN2D 61.45 0 No comment
    HCN1 93.52 0 No comment
    HECW2 99.99 0 No comment
    HNRNPU 95.95 0 No comment
    HUWE1 99.62 0 No comment
    IER3IP1 99.80 0 No comment
    IFIH1 99.99 0 No comment
    IQSEC2 91.31 0 No comment
    IRF2BPL 91.18 0 No comment
    ITPA 100.00 0 No comment
    KANSL1 99.98 0 No comment
    KARS1 99.99 0 No comment
    KCNA1 100.00 0 No comment
    KCNA2 100.00 0 No comment
    KCNB1 99.01 0 No comment
    KCNC1 99.52 0 No comment
    KCNH1 99.96 0 No comment
    KCNJ10 100.00 0 No comment
    KCNK4 96.68 0 No comment
    KCNMA1 99.92 0 No comment
    KCNQ2 98.57 0 No comment
    KCNQ3 95.56 0 No comment
    KCNQ5 94.69 0 No comment
    KCNT1 97.66 0 No comment
    KCNT2 100.00 0 No comment
    KCTD7 97.74 0 No comment
    KDM5C 99.69 0 No comment
    KIF1A 99.96 0 No comment
    KIF2A 99.83 0 No comment
    KIF5C 99.91 0 No comment
    KMT2E 99.89 0 No comment
    MAP1B 99.93 0 No comment
    MBD5 100.00 0 No comment
    MECP2 91.83 0 No comment
    MED13L 99.94 0 No comment
    MEF2C 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MOCS1 97.59 0 No comment
    MOCS2 100.00 0 No comment
    MTOR 99.89 0 No comment
    NARS2 99.98 0 No comment
    NBEA 98.89 0 No comment
    NEU1 100.00 0 No comment
    NEXMIF 99.96 0 No comment
    NF1 99.55 0 No comment
    NF2 99.93 0 No comment
    NHLRC1 99.28 0 No comment
    NIPA1 84.21 0 No comment
    NPRL2 100.00 0 No comment
    NPRL3 100.00 0 No comment
    NRXN1 98.90 0 No comment
    NTRK2 100.00 0 No comment
    NUS1 98.46 0 No comment
    OTUD6B 99.73 0 No comment
    PACS2 96.45 0 No comment
    PAFAH1B1 100.00 0 No comment
    PARS2 100.00 0 No comment
    PCDH19 99.80 0 No comment
    PHACTR1 97.55 0 No comment
    PIGA 99.89 0 No comment
    PIGN 99.84 0 No comment
    PIGQ 100.00 0 No comment
    PIGS 100.00 0 No comment
    PIGT 100.00 0 No comment
    PLCB1 99.97 0 No comment
    PLPBP 99.57 0 No comment
    PNKP 99.98 0 No comment
    PNPO 99.98 0 No comment
    POLG 99.86 0 No comment
    PPP2R5D 99.94 0 No comment
    PPP3CA 99.93 0 No comment
    PPT1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRRT2 100.00 0 No comment
    PTEN 92.28 0 No comment
    PURA 85.06 0 No comment
    QARS1 100.00 0 No comment
    RELN 99.97 0 No comment
    RHOBTB2 99.98 0 No comment
    RNASEH2A 99.99 0 No comment
    RNASEH2B 93.70 0 No comment
    RNASEH2C 95.34 0 No comment
    ROGDI 94.47 0 No comment
    RORA 97.11 0 No comment
    RORB 100.00 0 No comment
    RTN4IP1 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SCARB2 100.00 0 No comment
    SCN1A 99.91 0 No comment
    SCN1B 95.75 0 No comment
    SCN2A 100.00 0 No comment
    SCN3A 100.00 0 No comment
    SCN8A 99.95 0 No comment
    SERPINI1 99.98 0 No comment
    SETD2 99.95 0 No comment
    SIK1 99.98 0 No comment
    SLC12A5 99.55 0 No comment
    SLC13A5 99.89 0 No comment
    SLC19A3 100.00 0 No comment
    SLC1A2 99.99 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A22 99.88 0 No comment
    SLC2A1 99.27 0 No comment
    SLC35A2 99.82 0 No comment
    SLC35A3 99.97 0 No comment
    SLC6A1 99.93 0 No comment
    SLC6A8 91.78 0 No comment
    SLC9A6 94.23 0 No comment
    SMARCA2 97.46 0 No comment
    SMC1A 99.50 0 No comment
    SNAP25 100.00 0 No comment
    AFG2A 100.00 0 No comment
    SPTAN1 99.98 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 93.40 0 No comment
    STAG1 99.98 0 No comment
    STX1B 99.89 0 No comment
    STXBP1 100.00 0 No comment
    SYN1 75.34 0 No comment
    SYNGAP1 98.18 0 No comment
    SYNJ1 99.27 0 No comment
    SZT2 99.94 0 No comment
    TANC2 100.00 0 No comment
    TBC1D24 99.73 0 No comment
    TBCD 96.99 0 No comment
    TCF4 99.90 0 No comment
    TK2 85.99 0 No comment
    ACD 99.86 0 No comment
    TRAK1 99.99 0 No comment
    TRAPPC6B 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRIT1 99.98 0 No comment
    TSC1 99.97 0 No comment
    TSC2 99.99 0 No comment
    TUBA1A 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    UBA5 99.97 0 No comment
    UBE3A 99.97 0 No comment
    UFC1 99.91 0 No comment
    UGDH 99.96 0 No comment
    VARS1 100.00 0 No comment
    VARS2 100.00 0 No comment
    WDR26 99.78 0 No comment
    WDR45 99.67 0 No comment
    WWOX 100.00 0 No comment
    YWHAG 100.00 0 No comment
    ZBTB18 99.11 0 No comment
    ZEB2 99.91 0 No comment
    ZNHIT3 74.73 0 No comment
  • Schwannoma Predisposition (3 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    NF2 100.00 1
    SMARCB1 100.00 1
    LZTR1 100.00 1
  • Schwannoma Predisposition Syndrome (3 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    NF2
    SMARCB1
    LZTR1
  • Sturge-Weber syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • test
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 No comment
    ABAT 100.00 0 No comment
    ACTB 99.92 0 No comment
    ACTG1 100.00 0 No comment
    ACTL6B 99.16 0 No comment
    ACY1 99.96 0 No comment
    ADAR 99.99 0 No comment
    ADPRS 91.11 0 No comment
    ADSL 99.73 0 No comment
    AFG3L2 95.23 0 No comment
    ALDH7A1 99.83 0 No comment
    ALG11 100.00 0 No comment
    ALG13 95.29 0 No comment
    AMT 100.00 0 No comment
    ANKRD11 99.99 0 No comment
    AP3B2 97.74 0 No comment
    AP4S1 87.73 0 No comment
    ARFGEF2 99.81 0 No comment
    ARHGEF9 99.89 0 No comment
    ARID1B 87.88 0 No comment
    ARV1 89.03 0 No comment
    ARX 59.32 0 No comment
    ASXL3 99.74 0 No comment
    ATN1 99.12 0 No comment
    ATP1A2 99.88 0 No comment
    ATP1A3 99.81 0 No comment
    BRAT1 99.96 0 No comment
    BSCL2 100.00 0 No comment
    CACNA1A 92.18 0 No comment
    CACNA1B 93.35 0 No comment
    CACNA1E 99.99 0 No comment
    CACNA1G 99.63 0 No comment
    CACNA2D2 94.11 0 No comment
    CASK 99.78 0 No comment
    CDK13 88.47 0 No comment
    CDKL5 97.71 0 No comment
    CERS1 76.68 0 No comment
    CERT1 99.89 0 No comment
    CHD2 99.95 0 No comment
    CLCN4 99.94 0 No comment
    CLN3 99.98 0 No comment
    CLN5 97.84 0 No comment
    CLN6 91.00 0 No comment
    CLN8 100.00 0 No comment
    CLTC 100.00 0 No comment
    CNKSR2 99.28 0 No comment
    CNTNAP2 99.99 0 No comment
    COL18A1 96.27 0 No comment
    COL4A1 98.54 0 No comment
    CPLX1 99.70 0 No comment
    CPT2 97.07 0 No comment
    CSNK2B 100.00 0 No comment
    CSTB 92.54 0 No comment
    CTSD 97.90 0 No comment
    CUX2 98.72 0 No comment
    CYFIP2 99.99 0 No comment
    DCX 99.86 0 No comment
    DDX3X 99.66 0 No comment
    DENND5A 98.99 0 No comment
    DEPDC5 99.97 0 No comment
    DHDDS 99.77 0 No comment
    DMXL2 99.86 0 No comment
    DNM1 94.54 0 No comment
    DNM1L 99.97 0 No comment
    DOCK7 99.35 0 No comment
    DYRK1A 100.00 0 No comment
    EEF1A2 91.59 0 No comment
    EHMT1 98.44 0 No comment
    EPM2A 81.75 0 No comment
    FARS2 99.99 0 No comment
    FGF12 100.00 0 No comment
    FLNA 99.50 0 No comment
    FMN2 92.71 0 No comment
    FMR1 99.71 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 75.13 0 No comment
    FRRS1L 69.11 0 No comment
    FZR1 100.00 0 No comment
    GABBR2 95.14 0 No comment
    GABRA1 100.00 0 No comment
    GABRA2 100.00 0 No comment
    GABRB1 100.00 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 98.87 0 No comment
    GABRG2 92.15 0 No comment
    GAD1 100.00 0 No comment
    GAMT 95.00 0 No comment
    GBA1 100.00 0 No comment
    GLDC 96.06 0 No comment
    GNAO1 100.00 0 No comment
    GNB1 100.00 0 No comment
    GNB5 99.70 0 No comment
    GOSR2 99.87 0 No comment
    GPHN 100.00 0 No comment
    GRIA2 100.00 0 No comment
    GRIA3 97.93 0 No comment
    GRIK2 99.97 0 No comment
    GRIN1 99.74 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRIN2D 61.45 0 No comment
    HCN1 93.52 0 No comment
    HECW2 99.99 0 No comment
    HNRNPU 95.95 0 No comment
    HUWE1 99.62 0 No comment
    IER3IP1 99.80 0 No comment
    IFIH1 99.99 0 No comment
    IQSEC2 91.31 0 No comment
    IRF2BPL 91.18 0 No comment
    ITPA 100.00 0 No comment
    KANSL1 99.98 0 No comment
    KARS1 99.99 0 No comment
    KCNA1 100.00 0 No comment
    KCNA2 100.00 0 No comment
    KCNB1 99.01 0 No comment
    KCNC1 99.52 0 No comment
    KCNH1 99.96 0 No comment
    KCNJ10 100.00 0 No comment
    KCNK4 96.68 0 No comment
    KCNMA1 99.92 0 No comment
    KCNQ2 98.57 0 No comment
    KCNQ3 95.56 0 No comment
    KCNQ5 94.69 0 No comment
    KCNT1 97.66 0 No comment
    KCNT2 100.00 0 No comment
    KCTD7 97.74 0 No comment
    KDM5C 99.69 0 No comment
    KIF1A 99.96 0 No comment
    KIF2A 99.83 0 No comment
    KIF5C 99.91 0 No comment
    KMT2E 99.89 0 No comment
    MAP1B 99.93 0 No comment
    MBD5 100.00 0 No comment
    MECP2 91.83 0 No comment
    MED13L 99.94 0 No comment
    MEF2C 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MOCS1 97.59 0 No comment
    MOCS2 100.00 0 No comment
    MTOR 99.89 0 No comment
    NARS2 99.98 0 No comment
    NBEA 98.89 0 No comment
    NEU1 100.00 0 No comment
    NEXMIF 99.96 0 No comment
    NF1 99.55 0 No comment
    NF2 99.93 0 No comment
    NHLRC1 99.28 0 No comment
    NIPA1 84.21 0 No comment
    NPRL2 100.00 0 No comment
    NPRL3 100.00 0 No comment
    NRXN1 98.90 0 No comment
    NTRK2 100.00 0 No comment
    NUS1 98.46 0 No comment
    OTUD6B 99.73 0 No comment
    PACS2 96.45 0 No comment
    PAFAH1B1 100.00 0 No comment
    PARS2 100.00 0 No comment
    PCDH19 99.80 0 No comment
    PHACTR1 97.55 0 No comment
    PIGA 99.89 0 No comment
    PIGN 99.84 0 No comment
    PIGQ 100.00 0 No comment
    PIGS 100.00 0 No comment
    PIGT 100.00 0 No comment
    PLCB1 99.97 0 No comment
    PLPBP 99.57 0 No comment
    PNKP 99.98 0 No comment
    PNPO 99.98 0 No comment
    POLG 99.86 0 No comment
    PPP2R5D 99.94 0 No comment
    PPP3CA 99.93 0 No comment
    PPT1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRRT2 100.00 0 No comment
    PTEN 92.28 0 No comment
    PURA 85.06 0 No comment
    QARS1 100.00 0 No comment
    RELN 99.97 0 No comment
    RHOBTB2 99.98 0 No comment
    RNASEH2A 99.99 0 No comment
    RNASEH2B 93.70 0 No comment
    RNASEH2C 95.34 0 No comment
    ROGDI 94.47 0 No comment
    RORA 97.11 0 No comment
    RORB 100.00 0 No comment
    RTN4IP1 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SCARB2 100.00 0 No comment
    SCN1A 99.91 0 No comment
    SCN1B 95.75 0 No comment
    SCN2A 100.00 0 No comment
    SCN3A 100.00 0 No comment
    SCN8A 99.95 0 No comment
    SERPINI1 99.98 0 No comment
    SETD2 99.95 0 No comment
    SIK1 99.98 0 No comment
    SLC12A5 99.55 0 No comment
    SLC13A5 99.89 0 No comment
    SLC19A3 100.00 0 No comment
    SLC1A2 99.99 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A22 99.88 0 No comment
    SLC2A1 99.27 0 No comment
    SLC35A2 99.82 0 No comment
    SLC35A3 99.97 0 No comment
    SLC6A1 99.93 0 No comment
    SLC6A8 91.78 0 No comment
    SLC9A6 94.23 0 No comment
    SMARCA2 97.46 0 No comment
    SMC1A 99.50 0 No comment
    SNAP25 100.00 0 No comment
    AFG2A 100.00 0 No comment
    SPTAN1 99.98 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 93.40 0 No comment
    STAG1 99.98 0 No comment
    STX1B 99.89 0 No comment
    STXBP1 100.00 0 No comment
    SYN1 75.34 0 No comment
    SYNGAP1 98.18 0 No comment
    SYNJ1 99.27 0 No comment
    SZT2 99.94 0 No comment
    TANC2 100.00 0 No comment
    TBC1D24 99.73 0 No comment
    TBCD 96.99 0 No comment
    TCF4 99.90 0 No comment
    TK2 85.99 0 No comment
    ACD 99.86 0 No comment
    TRAK1 99.99 0 No comment
    TRAPPC6B 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRIT1 99.98 0 No comment
    TSC1 99.97 0 No comment
    TSC2 99.99 0 No comment
    TUBA1A 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    UBA5 99.97 0 No comment
    UBE3A 99.97 0 No comment
    UFC1 99.91 0 No comment
    UGDH 99.96 0 No comment
    VARS1 100.00 0 No comment
    VARS2 100.00 0 No comment
    WDR26 99.78 0 No comment
    WDR45 99.67 0 No comment
    WWOX 100.00 0 No comment
    YWHAG 100.00 0 No comment
    ZBTB18 99.11 0 No comment
    ZEB2 99.91 0 No comment
    ZNHIT3 74.73 0 No comment