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X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome

Disease Export to PDF
Name:
X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
Description:

An X-linked syndromic intellectual disability characterized by severe intellectual disability, macrocephaly, hypotonia, obesity and recurrent respiratory tract infections in male patients.
ORPHAcode:
83648
XREF(s):
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83648
Analyte(s):
OFD1
Created:
13 May 2019 - 01:02
Changed:
10 Jun 2020 - 13:44
  • Ciliopathy (120 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACVR2B 99.99 0
    ADAMTS9 99.94 0
    AHI1 99.86 0
    ALMS1 99.90 0
    ANKS6 100.00 0
    ARL13B 99.53 0
    ARL3 99.98 0
    ARL6 99.90 0
    ARMC9 99.77 0
    B9D1 99.80 0
    B9D2 99.88 0
    BBIP1 99.99 0
    BBS1 100.00 0
    BBS10 99.98 0
    BBS12 100.00 0
    BBS2 99.90 0
    BBS4 99.88 0
    BBS5 99.00 0
    BBS7 99.42 0
    BBS9 99.75 0
    C2CD3 99.88 0
    CBY1 100.00 0
    CC2D2A 99.95 0
    CCDC103 99.68 0
    CCDC172 99.85 0
    CCDC28B 99.99 0
    CCDC32 99.97 0
    CCDC39 99.74 0
    CCDC40 100.00 0
    CCDC65 99.80 0
    CCDC96 100.00 0
    CCNO 100.00 0
    CENPF 99.97 0
    CEP104 99.99 0
    CEP120 99.90 0
    CEP164 99.99 0
    CEP290 98.10 0
    CEP295 99.94 0
    CEP41 99.99 0
    CEP55 99.92 0
    CEP83 98.68 0
    CFAP251 99.98 0
    CFAP298 99.96 0
    CFAP300 99.47 0
    CFAP410 100.00 0
    CFAP418 100.00 0
    CFAP44 99.75 0
    CFAP53 99.95 0
    CFAP69 99.09 0
    CFC1 21.93 0
    CILK1 99.69 0
    CPLANE1 99.81 0
    CRB2 99.95 0
    CSPP1 98.31 0
    DCDC2 99.96 0
    DDX59 99.67 0
    DEUP1 99.86 0
    DHCR7 99.97 0
    DLG5 99.91 0
    DNAAF1 99.99 0
    DNAAF11 99.80 0
    DNAAF2 99.91 0
    DNAAF3 99.99 0
    DNAAF4 99.78 0
    DNAAF5 99.99 0
    DNAAF6 98.73 0
    DNAH1 99.98 0
    DNAH11 99.93 0
    DNAH5 99.98 0
    DNAH8 99.84 0
    DNAI1 99.92 0
    DNAI2 99.86 0
    DNAJB13 99.91 0
    DNAH9 99.79 0
    DRC1 99.93 0
    DYNC2H1 99.66 0
    DYNC2I1 99.99 0
    DYNC2I2 99.98 0
    DYNC2LI1 99.94 0
    DYNLT2B 100.00 0
    EVC 99.95 0
    EVC2 99.97 0
    EXOC3L2 99.88 0
    EXOC6B 99.41 0
    EXOC8 99.99 0
    EXTL3 99.99 0
    FAM149B1 99.69 0
    FAM166B 99.99 0
    FOXF1 99.99 0
    FUZ 99.99 0
    GAS2L2 100.00 0
    GAS8 100.00 0
    GLI3 100.00 0
    GLIS2 100.00 0
    HNF1B 100.00 0
    HYDIN 81.28 0
    HYLS1 100.00 0
    IFT122 99.98 0
    IFT140 100.00 0
    IFT172 99.98 0
    IFT27 100.00 0
    IFT43 99.97 0
    IFT52 99.82 0
    IFT74 99.71 0
    IFT80 99.69 0
    IFT81 94.64 0
    INPP5E 99.85 0
    INTS13 98.20 0
    INTU 99.92 0
    INVS 99.94 0
    IQCB1 99.72 0
    IQCE 99.77 0
    KATNIP 99.13 0
    KCTD3 99.75 0
    KIAA0586 95.75 0
    KIAA0753 100.00 0
    KIF14 97.80 0
    KIF3B 99.99 0
    KIF7 100.00 0
    LBR 99.66 0
    LCA5 99.89 0
    LRRC34 99.52 0
    LRRC45 99.98 0
    LRRC56 99.98 0
    LZTFL1 100.00 0
    MAPKBP1 99.98 0
    MCIDAS 100.00 0
    MKKS 100.00 0
    MKS1 99.92 0
    MMP21 99.99 0
    MRE11 99.93 0
    NCAPG2 99.97 0
    NEK1 99.83 0
    NEK9 99.96 0
    NME5 99.81 0
    NME8 99.83 0
    NPHP1 99.05 0
    NPHP3 99.89 0
    NPHP4 99.98 0
    OCRL 99.89 0
    ODAD1 96.04 0
    ODAD2 98.19 0
    ODAD3 99.96 0
    ODAD4 99.85 0
    OFD1 99.68 0
    PDE6D 99.94 0
    PIBF1 99.90 0
    PIK3C2A 99.92 0
    PKD1 99.98 0
    PKD2 99.91 0
    PKHD1 99.95 0
    PMFBP1 99.89 0
    PMM2 99.93 0
    POC1A 99.98 0
    POC1B 100.00 0
    RAB28 99.97 0
    RPGR 94.45 0
    RPGRIP1L 96.35 0
    RSPH1 99.87 0
    RSPH3 99.94 0
    RSPH4A 99.95 0
    RSPH9 99.99 0
    SBDS 99.93 0
    SCLT1 95.17 0
    SCNM1 99.47 0
    SDCCAG8 100.00 0
    SLC30A7 94.71 0
    SPAG1 99.78 0
    STK36 99.98 0
    SUFU 100.00 0
    TBC1D32 99.75 0
    TCTN1 99.92 0
    TCTN2 99.99 0
    TCTN3 99.92 0
    TMEM107 100.00 0
    TMEM138 100.00 0
    TMEM17 99.96 0
    TMEM216 99.98 0
    TMEM218 99.94 0
    TMEM231 88.88 0
    TMEM237 99.30 0
    TMEM260 99.90 0
    TMEM67 99.69 0
    TOGARAM1 99.93 0
    TOPORS 99.99 0
    TRAF3IP1 99.96 0
    TRIM32 100.00 0
    TTC21B 99.50 0
    TTC23 99.87 0
    TTC26 99.97 0
    TTC6 99.77 0
    TTC8 99.67 0
    TUBGCP4 99.80 0
    TULP1 99.99 0
    TULP3 99.91 0
    TXNDC15 99.78 0
    VHL 100.00 0
    VPS13B 99.90 0
    WDPCP 99.87 0
    WDR19 99.80 0
    WDR35 99.92 0
    XPNPEP3 99.99 0
    ZFYVE19 99.99 0
    ZIC3 99.90 0
    ZMYND10 99.99 0
    ZNF423 98.94 0
    ZSWIM6 98.94 0
  • Primary Ciliary Dyskinesia (61 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ODAD2 100.00 0 NM_018076.5
    CCDC103 100.00 0 NM_213607.3
    ODAD1 100.00 0 NM_144577.4
    ODAD3 100.00 0 NM_145045.5
    CCDC39 100.00 0 NM_181426.2
    CCDC40 100.00 0 NM_017950.4
    CCDC65 100.00 0 NM_033124.5
    CCNO 100.00 0 NM_021147.5
    CFAP251 100.00 0 NM_144668.6
    CFAP298 100.00 0 NM_021254.4
    CFAP300 100.00 0 NM_032930.3
    CFAP45 100.00 0 NM_012337.3
    CFAP53 100.00 0 NM_145020.5
    CFAP57 100.00 0 NM_152498.3
    CFAP74 100.00 0 NM_001304360.2
    DNAAF1 100.00 0 NM_178452.6
    DNAAF2 100.00 0 NM_018139.2
    DNAAF3 100.00 0 NM_001256714.1
    DNAAF4 100.00 0 NM_130810.4
    DNAAF5 100.00 0 NM_017802.4
    DNAAF6 100.00 0 NM_001169154.2
    DNAH11 100.00 0 NM_001277115.2
    DNAH17 100.00 0 NM_173628.4
    DNAH2 100.00 0 NM_020877.5
    DNAH5 100.00 0 NM_001369.3
    DNAH6 100.00 0 NM_001370.2
    DNAH8 100.00 0 NM_001206927.2
    DNAH9 100.00 0 NM_031427.4
    DNAI1 100.00 0 NM_012144.4
    DNAI2 100.00 0 NM_023036.5
    DNAJB13 100.00 0 NM_153614.4
    DRC1 100.00 0 NM_145038.5
    ENKUR 100.00 0 NM_145010.4
    FOXJ1 100.00 0 NM_001454.4
    GAS2L2 100.00 0 NM_139285.4
    GAS8 100.00 0 NM_001481.3
    HYDIN 100.00 0 NM_001270974.2
    LRRC56 100.00 0 NM_198075.4
    DNAAF11 100.00 0 NM_012472.6
    MCIDAS 100.00 0 NM_001190787.3
    MNS1 100.00 0 NM_018365.4
    NEK10 100.00 0 NM_199347.4
    NME5 100.00 0 NM_003551.3
    NME8 100.00 0 NM_016616.5
    OFD1 100.00 0 NM_003611.3
    RPGR 100.00 0 NM_000328.3
    RSPH1 100.00 0 NM_080860.4
    RSPH3 100.00 0 NM_031924.8
    RSPH4A 100.00 0 NM_001010892.3
    RSPH9 100.00 0 NM_152732.5
    SPAG1 100.00 0 NM_172218.3
    SPEF2 100.00 0 NM_024867.4
    STK36 100.00 0 NM_015690.5
    TEKT1 100.00 0 NM_053285.2
    TP73 100.00 0 NM_005427.4
    TTC12 100.00 0 NM_017868.4
    ODAD4 100.00 0 NM_031421.5
    ZMYND10 100.00 0 NM_015896.4
    CFAP221 100.00 -2
    DNAL1 100.00 -2 NM_031427.4
    DAW1 100.00 -2 NM_178821.3