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  2. Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Disease Export to PDF
Name:
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Description:
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.
ORPHAcode:
397715
Synonyms:
JBTS with JATD
Joubert syndrome with JATD
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
Analyte(s):
CSPP1
KIAA0586
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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