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  2. Isolated Klippel-Feil syndrome

Isolated Klippel-Feil syndrome

Disease Export to PDF
Name:
Isolated Klippel-Feil syndrome
Description:
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
ORPHAcode:
2345
Synonyms:
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
XREF(s):
Orphanet
OMIM
OMIM
OMIM
ICD-10
Analyte(s):
GDF3
MEOX1
GDF6
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Skeletal dysplasia (394 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0 No comment
    ABL1 100.00 0 No comment
    ACAN 98.89 0 No comment
    ACP4 100.00 0 No comment
    ACP5 100.00 0 No comment
    ACVR1 100.00 0 No comment
    ADAMTS10 99.88 0 No comment
    ADAMTS17 89.95 0 No comment
    ADAMTSL2 100.00 0 No comment
    AFF4 100.00 0 No comment
    AGA 100.00 0 No comment
    AGPS 100.00 0 No comment
    AHDC1 100.00 0 No comment
    AKT1 100.00 0 No comment
    ALPL 100.00 0 No comment
    ALX1 100.00 0 No comment
    ALX3 91.36 0 No comment
    ALX4 99.70 0 No comment
    AMER1 100.00 0 No comment
    ANKH 100.00 0 No comment
    ANO5 100.00 0 No comment
    ANTXR2 100.00 0 No comment
    APC 100.00 0 No comment
    ARCN1 100.00 0 No comment
    ARHGAP31 100.00 0 No comment
    ARID1A 94.64 0 No comment
    ARID1B 92.99 0 No comment
    SLURP1 85.73 0 No comment
    ARSL 100.00 0 No comment
    ASCC1 91.27 0 No comment
    ASXL2 100.00 0 No comment
    ATP6V0A2 100.00 0 No comment
    B3GALT6 56.12 0 No comment
    B3GAT3 95.56 0 No comment
    B4GALT7 93.23 0 No comment
    BGN 100.00 0 No comment
    BHLHA9 38.48 0 No comment
    BMP1 99.86 0 No comment
    BMP2 100.00 0 No comment
    BMPER 100.00 0 No comment
    BMPR1B 100.00 0 No comment
    BRIP1 100.00 0 No comment
    C1R 100.00 0 No comment
    C1S 100.00 0 No comment
    C2CD3 100.00 0 No comment
    CA2 100.00 0 No comment
    CANT1 100.00 0 No comment
    CASR 100.00 0 No comment
    CC2D2A 98.16 0 No comment
    CCDC8 100.00 0 No comment
    CCN6 100.00 0 No comment
    CCNQ 84.41 0 No comment
    CD96 100.00 0 No comment
    CDC45 100.00 0 No comment
    CDC6 100.00 0 No comment
    CDH3 100.00 0 No comment
    CDKN1C 62.25 0 No comment
    CDT1 87.95 0 No comment
    CEP120 100.00 0 No comment
    CEP290 99.99 0 No comment
    CHD7 100.00 0 No comment
    CHST14 98.57 0 No comment
    CHST3 100.00 0 No comment
    CHSY1 91.67 0 No comment
    CKAP2L 100.00 0 No comment
    CLCN5 100.00 0 No comment
    CLCN7 94.99 0 No comment
    COG1 99.24 0 No comment
    COL10A1 100.00 0 No comment
    COL11A1 100.00 0 No comment
    COL11A2 99.14 0 No comment
    COL1A1 100.00 0 No comment
    COL1A2 99.93 0 No comment
    COL2A1 100.00 0 No comment
    COL9A1 100.00 0 No comment
    COL9A2 100.00 0 No comment
    COL9A3 96.41 0 No comment
    COMP 99.90 0 No comment
    CPLANE1 100.00 0 No comment
    CREB3L1 100.00 0 No comment
    CREBBP 100.00 0 No comment
    CRTAP 89.72 0 No comment
    CSPP1 100.00 0 No comment
    CTSA 100.00 0 No comment
    CTSK 100.00 0 No comment
    CUL7 99.99 0 No comment
    CYP26B1 100.00 0 No comment
    DDR2 100.00 0 No comment
    RIGI 100.00 0 No comment
    DDX59 100.00 0 No comment
    DHCR24 99.96 0 No comment
    DHODH 100.00 0 No comment
    DLL3 78.42 0 No comment
    DLX3 100.00 0 No comment
    DLX5 100.00 0 No comment
    DLX6 99.69 0 No comment
    DMP1 100.00 0 No comment
    DOCK6 99.12 0 No comment
    DVL1 100.00 0 No comment
    DVL3 100.00 0 No comment
    DYM 100.00 0 No comment
    DYNC2H1 100.00 0 No comment
    DYNC2LI1 100.00 0 No comment
    GLB1 100.00 0 No comment
    EDNRA 100.00 0 No comment
    EFNA4 100.00 0 No comment
    EFNB1 100.00 0 No comment
    EFTUD2 100.00 0 No comment
    EIF2AK3 95.52 0 No comment
    EIF4A3 100.00 0 No comment
    ELMO2 100.00 0 No comment
    ENPP1 96.48 0 No comment
    EOGT 100.00 0 No comment
    EP300 100.00 0 No comment
    ERCC4 100.00 0 No comment
    ERF 100.00 0 No comment
    ESCO2 100.00 0 No comment
    EVC 94.45 0 No comment
    EVC2 99.55 0 No comment
    EXT1 100.00 0 No comment
    EXT2 100.00 0 No comment
    EZH2 100.00 0 No comment
    FAM111A 100.00 0 No comment
    FAM20C 92.71 0 No comment
    FANCA 99.70 0 No comment
    FANCB 100.00 0 No comment
    FANCC 100.00 0 No comment
    FANCD2 100.00 0 No comment
    FANCE 91.17 0 No comment
    FANCF 100.00 0 No comment
    FANCG 100.00 0 No comment
    FANCI 100.00 0 No comment
    FANCL 100.00 0 No comment
    FBLN1 95.59 0 No comment
    FBN1 100.00 0 No comment
    FBN2 100.00 0 No comment
    FBXW4 92.44 0 No comment
    FERMT3 100.00 0 No comment
    FGF10 100.00 0 No comment
    FGF16 100.00 0 No comment
    FGF23 100.00 0 No comment
    FGF3 80.02 0 No comment
    FGF4 70.06 0 No comment
    FGF8 94.82 0 No comment
    FGF9 100.00 0 No comment
    FGFR1 100.00 0 No comment
    FGFR2 100.00 0 No comment
    FGFR3 99.26 0 No comment
    FIG4 100.00 0 No comment
    FKBP10 100.00 0 No comment
    FLNA 100.00 0 No comment
    FLNB 100.00 0 No comment
    FMN1 100.00 0 No comment
    FN1 100.00 0 No comment
    FREM1 100.00 0 No comment
    FUCA1 100.00 0 No comment
    FZD2 98.72 0 No comment
    GALNS 96.18 0 No comment
    GALNT3 100.00 0 No comment
    GDF3 100.00 0 No comment
    GDF5 100.00 0 No comment
    GDF6 93.56 0 No comment
    GJA1 100.00 0 No comment
    GLI3 100.00 0 No comment
    GNAS 98.96 0 No comment
    GNPAT 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GNS 100.00 0 No comment
    GORAB 100.00 0 No comment
    GPC3 100.00 0 No comment
    GPC6 100.00 0 No comment
    GPR68 100.00 0 No comment
    GPX4 87.15 0 No comment
    GREM1 100.00 0 No comment
    GUSB 100.00 0 No comment
    HDAC4 100.00 0 No comment
    HDAC8 100.00 0 No comment
    HES7 99.67 0 No comment
    HOXA11 99.40 0 No comment
    HOXA13 73.35 0 No comment
    HOXD13 80.52 0 No comment
    HPGD 99.99 0 No comment
    HSPG2 99.43 0 No comment
    HUWE1 100.00 0 No comment
    CILK1 100.00 0 No comment
    IDH1 100.00 0 No comment
    IDH2 92.01 0 No comment
    IDS 100.00 0 No comment
    IFITM5 100.00 0 No comment
    IFT122 100.00 0 No comment
    IFT140 100.00 0 No comment
    IFT172 100.00 0 No comment
    IFT43 100.00 0 No comment
    IFT80 100.00 0 No comment
    IGF1R 100.00 0 No comment
    IHH 99.88 0 No comment
    IKBKG 99.74 0 No comment
    IL11RA 100.00 0 No comment
    IL1RN 100.00 0 No comment
    BPNT2 98.65 0 No comment
    INPPL1 96.74 0 No comment
    JAG1 99.66 0 No comment
    KAT6B 100.00 0 No comment
    KIF22 100.00 0 No comment
    KIF7 96.94 0 No comment
    KRAS 100.00 0 No comment
    LBR 100.00 0 No comment
    LEMD3 100.00 0 No comment
    LFNG 82.55 0 No comment
    LIFR 100.00 0 No comment
    LMBR1 100.00 0 No comment
    LMNA 99.93 0 No comment
    LMX1B 99.99 0 No comment
    LONP1 99.83 0 No comment
    LPIN2 100.00 0 No comment
    LRIT3 100.00 0 No comment
    CORIN 98.90 0 No comment
    LRP5 97.87 0 No comment
    LTBP2 100.00 0 No comment
    LTBP3 96.02 0 No comment
    MAB21L2 100.00 0 No comment
    MAFB 99.89 0 No comment
    MAN2B1 100.00 0 No comment
    MAN2C1 100.00 0 No comment
    MAP3K7 100.00 0 No comment
    MATN3 86.25 0 No comment
    MEGF8 99.99 0 No comment
    MEOX1 100.00 0 No comment
    MESP2 100.00 0 No comment
    MGP 100.00 0 No comment
    MITF 100.00 0 No comment
    MKS1 100.00 0 No comment
    MMP13 100.00 0 No comment
    MMP2 100.00 0 No comment
    MMP9 100.00 0 No comment
    MNX1 71.50 0 No comment
    MSX2 100.00 0 No comment
    MYCN 86.70 0 No comment
    MYT1 100.00 0 No comment
    NAGLU 87.38 0 No comment
    NEK1 100.00 0 No comment
    NEU1 100.00 0 No comment
    NF1 99.95 0 No comment
    NFIX 97.15 0 No comment
    NIPBL 99.98 0 No comment
    NKX3-2 96.89 0 No comment
    NLRP3 100.00 0 No comment
    NOG 100.00 0 No comment
    NOTCH2 99.76 0 No comment
    NPRL2 100.00 0 No comment
    NSD1 100.00 0 No comment
    NSDHL 100.00 0 No comment
    NTRK2 100.00 0 No comment
    OBSL1 98.31 0 No comment
    OFD1 99.88 0 No comment
    SLC25A15 100.00 0 No comment
    ORC4 100.00 0 No comment
    ORC6 100.00 0 No comment
    OSTM1 99.55 0 No comment
    P3H1 99.77 0 No comment
    P4HB 99.90 0 No comment
    PALB2 100.00 0 No comment
    PAM16 96.78 0 No comment
    PANK2 98.60 0 No comment
    PAPSS2 100.00 0 No comment
    PCNT 100.00 0 No comment
    PCYT1A 100.00 0 No comment
    PDE3A 100.00 0 No comment
    PDE4D 98.77 0 No comment
    PEX7 91.13 0 No comment
    PGM3 99.99 0 No comment
    PHEX 100.00 0 No comment
    PIGV 100.00 0 No comment
    PIK3CA 100.00 0 No comment
    PITX1 98.27 0 No comment
    PLEKHM1 100.00 0 No comment
    PLOD2 100.00 0 No comment
    PLS3 100.00 0 No comment
    POLR1A 100.00 0 No comment
    POLR1C 100.00 0 No comment
    POLR1D 100.00 0 No comment
    BVES 100.00 0 No comment
    PORCN 100.00 0 No comment
    PPIB 100.00 0 No comment
    PRKAR1A 100.00 0 No comment
    PROK2 98.51 0 No comment
    PTDSS1 100.00 0 No comment
    PTH1R 99.01 0 No comment
    PTHLH 100.00 0 No comment
    PTPN11 98.80 0 No comment
    PYCR1 100.00 0 No comment
    RAB23 100.00 0 No comment
    RAB33B 100.00 0 No comment
    RAD21 100.00 0 No comment
    RAD51C 100.00 0 No comment
    RASGRP2 100.00 0 No comment
    RBM8A 100.00 0 No comment
    RBPJ 100.00 0 No comment
    RECQL4 96.37 0 No comment
    RMRP 100.00 0 No comment
    RNU4ATAC 100.00 0 No comment
    ROR2 98.67 0 No comment
    RPGRIP1L 96.45 0 No comment
    RSPO2 100.00 0 No comment
    RSPRY1 100.00 0 No comment
    RUNX2 98.51 0 No comment
    SALL1 100.00 0 No comment
    SALL4 100.00 0 No comment
    SBDS 100.00 0 No comment
    SEC24D 100.00 0 No comment
    SERPINF1 100.00 0 No comment
    SERPINH1 100.00 0 No comment
    SETD2 100.00 0 No comment
    SF3B4 100.00 0 No comment
    SH3BP2 91.63 0 No comment
    SH3PXD2B 99.68 0 No comment
    SHOX 90.47 0 No comment
    HHAT 90.28 0 No comment
    SLC17A5 100.00 0 No comment
    SLC26A2 99.96 0 No comment
    SLC29A3 98.83 0 No comment
    SLC34A3 100.00 0 No comment
    SLC35D1 99.99 0 No comment
    SLC39A13 100.00 0 No comment
    SLCO5A1 100.00 0 No comment
    SLX4 100.00 0 No comment
    SMAD3 100.00 0 No comment
    SMAD4 100.00 0 No comment
    SMARCA2 98.07 0 No comment
    SMARCA4 100.00 0 No comment
    SMARCAL1 100.00 0 No comment
    SMARCB1 100.00 0 No comment
    SMC1A 100.00 0 No comment
    SMC3 100.00 0 No comment
    SMO 94.17 0 No comment
    SNRPB 100.00 0 No comment
    SNX10 100.00 0 No comment
    SOST 99.39 0 No comment
    SOX6 100.00 0 No comment
    SOX9 97.88 0 No comment
    SP7 100.00 0 No comment
    STAT3 100.00 0 No comment
    SULF1 100.00 0 No comment
    SUMF1 100.00 0 No comment
    TBCE 100.00 0 No comment
    TBX15 100.00 0 No comment
    TBX3 99.88 0 No comment
    TBX4 94.32 0 No comment
    TBX5 100.00 0 No comment
    TBX6 100.00 0 No comment
    TBXAS1 100.00 0 No comment
    TCF12 100.00 0 No comment
    TCIRG1 100.00 0 No comment
    TCOF1 99.99 0 No comment
    TCTN3 100.00 0 No comment
    TGDS 100.00 0 No comment
    TGFB1 99.97 0 No comment
    TGFB2 100.00 0 No comment
    TGFBR1 92.91 0 No comment
    TGFBR2 100.00 0 No comment
    THPO 100.00 0 No comment
    TMCO1 100.00 0 No comment
    TMEM216 100.00 0 No comment
    TMEM38B 100.00 0 No comment
    TMEM67 100.00 0 No comment
    TNFRSF11B 100.00 0 No comment
    TP63 100.00 0 No comment
    TRAPPC2 95.31 0 No comment
    TREM2 100.00 0 No comment
    TRIP11 100.00 0 No comment
    TRIP4 100.00 0 No comment
    TRPS1 100.00 0 No comment
    TRPV4 100.00 0 No comment
    TTC21B 100.00 0 No comment
    TWIST1 70.93 0 No comment
    TYROBP 100.00 0 No comment
    UBE2T 100.00 0 No comment
    WDR19 100.00 0 No comment
    DYNC2I2 93.01 0 No comment
    WDR35 100.00 0 No comment
    WNT1 98.70 0 No comment
    WNT10B 98.99 0 No comment
    WNT3 100.00 0 No comment
    WNT5A 99.97 0 No comment
    WNT6 96.35 0 No comment
    WNT7A 100.00 0 No comment
    XYLT1 88.83 0 No comment
    XYLT2 98.70 0 No comment
    ZEB2 100.00 0 No comment
    ZIC1 100.00 0 No comment
    ZMPSTE24 100.00 0 No comment
    ZSWIM6 88.87 0 No comment