1. Analytes
  2. ADAMTS9

ADAMTS9

Analyte Export to PDF
Name:
ADAM metallopeptidase with thrombospondin type 1 motif 9
Symbol:
ADAMTS9
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
KIAA1312
XREF(s):
Orphanet
HGNC
Ensembl
SwissProt
Reactome
OMIM
Created:
17 Jul 2019 - 00:38
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
  • Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS9 100.00 1 NM_182920.2
    ALG8 100.00 1 NM_024079.5
    ANKS6 100.00 1 NM_173551.5
    ARL6 100.00 1 NM_001278293.3
    BBIP1 100.00 1 NM_001195305.3
    BBS1 100.00 1 NM_024649.5
    BBS10 100.00 1 NM_024685.4
    BBS12 100.00 1 NM_152618.3
    BBS2 100.00 1 NM_031885.5
    BBS4 100.00 1 NM_033028.5
    BBS5 100.00 1 NM_152384.3
    BBS7 100.00 1 NM_176824.3
    BBS9 100.00 1 NM_198428.3
    CDC73 100.00 1 NM_024529.5
    CEP164 100.00 1 NM_014956.5
    CEP290 100.00 1 NM_025114.4
    CEP83 100.00 1 NM_016122.3
    COL4A1 100.00 1 NM_001845.6
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    DCDC2 100.00 1 NM_016356.5
    DNAJB11 100.00 1 NM_016306.6
    DZIP1L 100.00 1 NM_173543.3
    EYA1 100.00 1 NM_000503.6
    FAN1 100.00 1 NM_014967.5
    FH 100.00 1 NM_000143.4
    FLCN 100.00 1 NM_144997.7
    GANAB 100.00 1 NM_198334.3
    GATA3 100.00 1 NM_001002295.2
    GATM 100.00 1 NM_001482.3
    GLIS2 100.00 1 NM_032575.3
    HNF1B 100.00 1 NM_000458.4
    IFT172 100.00 1 NM_015662.3
    IFT27 100.00 1 NM_001177701.3
    INVS 100.00 1 NM_014425.5
    IQCB1 100.00 1 NM_001023570.4
    LRP5 100.00 1 NM_002335.4
    LRP6 100.00 1 NM_002336.3
    LZTFL1 100.00 1 NM_020347.4
    MAPKBP1 100.00 1 NM_014994.3
    MET 100.00 1 NM_000245.4
    MKKS 100.00 1 NM_170784.3
    MKS1 100.00 1 NM_017777.4
    NEK8 100.00 1 NM_178170.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP1 100.00 1 NM_001128178.3
    NPHP3 100.00 1 NM_153240.5
    NPHP4 100.00 1 NM_015102.5
    OFD1 100.00 1 NM_003611.3
    PAX2 100.00 1 NM_000278.5
    PKD1 100.00 1 NM_001009944.3
    PKD2 100.00 1 NM_000297.4
    PKHD1 100.00 1 NM_138694.4
    PMM2 0.00 1 NM_000303.2 une seule position
    PRKCSH 100.00 1 NM_001289104.2
    PTEN 100.00 1 NM_000314.8
    REN 100.00 1 NM_000537.4
    RPGRIP1L 96.00 1 NM_015272.5
    SDCCAG8 100.00 1 NM_006642.5
    SDHB 100.00 1 NM_003000.3
    SDHD 100.00 1 NM_003002.4
    SEC61A1 100.00 1 NM_013336.4
    SEC63 100.00 1 NM_007214.5
    TMEM67 100.00 1 NM_153704.6
    TRIM32 100.00 1 NM_012210.4
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TTC21B 100.00 1 NM_024753.5
    TTC8 100.00 1 NM_144596.4
    UMOD 100.00 1 NM_003361.4
    VHL 100.00 1 NM_000551.4
    WDPCP 100.00 1 NM_015910.7
    WDR19 100.00 1 NM_025132.4
    XPNPEP3 100.00 1 NM_022098.4
    ZNF423 100.00 1 NM_001379286.1
    AHI1 100.00 1 NM_001134831.2
    ALG5 100.00 1 NM_013338.5
    ALG9 100.00 1 NM_024740.2
    ARL13B 100.00 1 NM_001174150.2
    ARL3 100.00 1 NM_004311.4
    ARMC9 100.00 1 NM_001352754.2
    ATXN10 100.00 1 NM_013236.4
    B9D1 100.00 1 NM_015681.6
    B9D2 100.00 1 NM_030578.4
    BAP1 100.00 1 NM_004656.4
    C2CD3 100.00 1 NM_001286577.2
    CC2D2A 100.00 1 NM_001378615.1
    CCDC28B 100.00 1 NM_024296.5
    CEP104 100.00 1 NM_014704.4
    CEP120 100.00 1 NM_001375405.1
    CEP41 100.00 1 NM_018718.3
    CFAP418 100.00 1 NM_177965.4
    CPLANE1 100.00 1 NM_001384732.1
    CSPP1 100.00 1 NM_001382391.1
    CYP24A1 100.00 1 NM_000782.5
    DLG5 100.00 1 NM_004747.4
    DYNC2H1 100.00 1 NM_001377.3
    DYNC2I1 100.00 1 NM_018051.5
    DYNC2I2 100.00 1 NM_052844.4
    DYNC2LI1 100.00 1 NM_016008.4
    DYNLT2B 100.00 1 NM_152773.5
    EVC 100.00 1 NM_153717.3
    EVC2 100.00 1 NM_147127.5
    FAM149B1 100.00 1 NM_173348.2
    HNF1A 100.00 1 NM_000545.8
    HYLS1 100.00 1 NM_001134793.2
    IFT122 100.00 1 NM_052989.3
    IFT140 100.00 1 NM_014714.4
    IFT43 100.00 1 NM_001102564.3
    IFT52 100.00 1 NM_016004.5
    IFT74 100.00 1 NM_025103.4
    IFT80 100.00 1 NM_020800.3
    IFT81 100.00 1 NM_014055.4
    INPP5E 100.00 1 NM_019892.6
    INTU 100.00 1 NM_015693.4
    JAG1 100.00 1 NM_000214.3
    KATNIP 100.00 1 NM_015202.5
    KIAA0586 100.00 1 NM_001329943.3
    KIAA0753 100.00 1 NM_014804.3
    KIF14 100.00 1 NM_014875.3
    KIF7 100.00 1 NM_198525.3
    NEK1 100.00 1 NM_001199397.3
    PARN 100.00 1 NM_002582.4
    PDE6D 100.00 1 NM_002601.4
    PIBF1 100.00 1 NM_006346.4
    POC1B 100.00 1 NM_172240.3
    RNF139 100.00 1 NM_007218.4
    SDHA 100.00 1 NM_004168.4
    SDHC 100.00 1 NM_003001.5
    SEC61B 100.00 1 NM_006808.3
    SLC41A1 100.00 1 NM_173854.6
    SREBF1 100.00 1 NM_004176.5
    SUFU 100.00 1 NM_016169.4
    TCTN1 100.00 1 NM_001082538.3
    TCTN2 100.00 1 NM_024809.5
    TCTN3 100.00 1 NM_015631.6
    TFAP2A 100.00 1 NM_001372066.1
    TMEM107 100.00 1 NM_183065.4
    TMEM138 100.00 1 NM_016464.5
    TMEM216 100.00 1 NM_001173990.3
    TMEM218 100.00 1 NM_001258244.2
    TMEM231 100.00 1 NM_001077418.3
    TMEM237 100.00 1 NM_001044385.3
    TOGARAM1 100.00 1 NM_001308120.2
    TRAF3IP1 100.00 1 NM_015650.4
    TXNDC15 100.00 1 NM_024715.4
    WDR35 100.00 1 NM_020779.4
  • Nephropathy panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 99.98 1
    ACTG2 99.99 1
    ACTN4 100.00 1
    ADAMTS13 100.00 1
    ADAMTS9 99.94 1
    ADCY10 99.77 1
    AGXT 100.00 1
    AGTR1 99.97 1
    AHI1 99.86 1
    ALDOB 100.00 1
    ALG1 86.66 1
    ALG8 95.49 1
    ALG9 99.73 1
    ALMS1 99.90 1
    ALPL 99.88 1
    ABCD1 100.00 1
    ANKS6 100.00 1
    ANLN 99.85 1
    ANOS1 99.96 1
    AP2S1 99.98 1
    APOA1 100.00 1
    APOA2 99.84 1
    APOL1 99.99 1
    APRT 100.00 1
    AQP2 100.00 1
    ARHGAP24 99.86 1
    ARHGDIA 100.00 1
    ARL13B 99.53 1
    ARL6 99.90 1
    ARSA 99.99 1
    ATP6V0A4 99.93 1
    ATP6V1B1 99.98 1
    ATP7B 100.00 1
    NLRP3 100.00 1
    AVPR2 100.00 1
    B9D1 99.80 1
    B9D2 99.88 1
    BBIP1 99.99 1
    BBS1 100.00 1
    BBS10 99.98 1
    BBS12 100.00 1
    BBS2 99.90 1
    BBS4 99.88 1
    BBS5 99.00 1
    BBS7 99.42 1
    BBS9 99.75 1
    BICC1 99.76 1
    BMP4 100.00 1
    BMP7 100.00 1
    BSND 99.92 1
    C3 100.00 1
    C5 99.92 1
    CA2 99.62 1
    CACNA1S 99.96 1
    CASR 99.99 1
    CC2D2A 99.95 1
    CCDC39 99.74 1
    CCNQ 99.98 1
    CD151 100.00 1
    CD2AP 99.69 1
    CD46 99.86 1
    CDC5L 99.83 1
    CDKN1C 100.00 1
    CEP104 99.99 1
    CEP120 99.90 1
    CEP164 99.99 1
    CEP290 98.10 1
    CEP41 99.99 1
    CEP83 98.68 1
    CFAP418 100.00 1
    CFB 99.97 1
    CFH 99.12 1
    CFHR1 84.44 1
    CFHR2 90.26 1
    CFHR3 91.62 1
    CFHR4 99.86 1
    CFHR5 99.68 1
    CFI 99.87 1
    CHD1L 98.53 1
    CHD7 99.99 1
    CHRM3 100.00 1
    CHRNA3 99.95 1
    CLCN5 99.67 1
    CLCN7 99.99 1
    CLCNKA 99.98 1
    CLCNKB 99.98 1
    CLDN10 99.97 1
    CLDN16 99.98 1
    CLDN19 99.02 1
    CNNM2 99.94 1
    COL4A1 99.99 1
    COL4A3 99.94 1
    COL4A4 99.95 1
    COL4A5 99.64 1
    COQ2 99.90 1
    COQ6 99.94 1
    COQ7 100.00 1
    COQ8A 100.00 1
    COQ8B 99.94 1
    COQ9 99.62 1
    CPLANE1 99.81 1
    CPT2 99.65 1
    CRB2 99.95 1
    CSPP1 98.31 1
    CTNS 100.00 1
    CUBN 99.99 1
    CUL3 99.76 1
    CYP11B2 100.00 1
    CYP24A1 100.00 1
    DAAM2 99.99 1
    DCDC2 99.96 1
    DGKE 99.10 1
    DMP1 99.99 1
    DNAJB11 99.97 1
    DSTYK 99.83 1
    DYNC2H1 99.66 1
    DYNC2I1 99.99 1
    DZIP1L 98.46 1
    EGF 99.96 1
    EGFR 99.68 1
    EHHADH 99.99 1
    EMP2 100.00 1
    ENPP1 99.88 1
    EVC 99.95 1
    EVC2 99.97 1
    EYA1 99.81 1
    FANCA 99.98 1
    FAHD2A 100.00 1
    FAM186B 99.99 1
    FAM20A 100.00 1
    FAN1 99.73 1
    FAT1 99.99 1
    FGA 99.98 1
    FGF20 99.71 1
    FGF23 100.00 1
    FGFR1 100.00 1
    FH 99.95 1
    FLCN 99.51 1
    FN1 99.95 1
    FRAS1 99.97 1
    FREM1 99.98 1
    FREM2 99.97 1
    FXYD2 100.00 1
    G6PC1 99.93 1
    GALNT3 99.52 1
    GALT 100.00 1
    GANAB 99.97 1
    GATA3 99.96 1
    GATM 99.92 1
    GDNF 99.99 1
    GLA 99.90 1
    GLI3 100.00 1
    GLIS2 100.00 1
    GNA11 99.99 1
    GON7 99.92 1
    GPC3 99.60 1
    GRHPR 99.93 1
    GRIP1 99.83 1
    GSN 99.93 1
    HNF1B 100.00 1
    HNF4A 100.00 1
    HOGA1 100.00 1
    HPRT1 97.80 1
    HPSE2 100.00 1
    HSD11B2 99.99 1
    IFT122 99.98 1
    IFT140 100.00 1
    IFT172 99.98 1
    IFT27 100.00 1
    IFT43 99.97 1
    IFT80 99.69 1
    IFT81 94.64 1
    INCENP 99.99 1
    INF2 99.99 1
    INPP5E 99.85 1
    INVS 99.94 1
    IQCB1 99.72 1
    ITGA3 99.86 1
    ITGA8 99.95 1
    ITGB4 99.99 1
    JAG1 100.00 1
    KANK1 99.99 1
    KANK2 99.99 1
    KANK4 99.70 1
    KCNA1 100.00 1
    KCNJ1 100.00 1
    KCNJ10 99.98 1
    KIAA0586 95.75 1
    KIF14 97.80 1
    KIF7 100.00 1
    KL 99.98 1
    KLHL3 99.97 1
    LAGE3 99.99 1
    LAMB2 99.99 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LRIG2 97.97 1
    LRP2 99.86 1
    LRP5 99.95 1
    LRP6 99.91 1
    LYZ 99.86 1
    LZTFL1 100.00 1
    MAGED2 99.98 1
    MAGI2 99.89 1
    MAPKBP1 99.98 1
    MET 99.97 1
    MKKS 100.00 1
    MKS1 99.92 1
    MMACHC 99.98 1
    MUC1 99.98 1
    MYH9 99.95 1
    MYO1E 99.94 1
    NEIL1 99.99 1
    NEK1 99.83 1
    NEK9 99.99 1
    NOTCH2 99.03 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NPHS1 99.97 1
    NPHS2 99.87 1
    NR3C2 100.00 1
    NUP107 97.46 1
    NUP133 99.45 1
    NUP205 99.92 1
    NUP93 99.87 1
    NXF5 96.29 1
    OCRL 99.89 1
    OFD1 99.68 1
    PAX2 99.99 1
    PAX8 99.99 1
    PBX1 99.88 1
    PCBD1 99.84 1
    PDE6D 99.94 1
    PDSS1 95.70 1
    PDSS2 99.87 1
    PHEX 99.83 1
    PKD1 99.98 1
    PKD2 99.91 1
    PKHD1 99.95 1
    PLCE1 99.98 1
    PLG 99.89 1
    PMM2 99.93 1
    PRKCSH 99.99 1
    PSAP 99.94 1
    PTEN 99.89 1
    PTPRO 99.91 1
    PYGM 99.96 1
    RBM48 99.09 1
    RCOR1 99.97 1
    REN 99.85 1
    RET 99.97 1
    ROBO2 99.80 1
    RPGRIP1 99.95 1
    RPGRIP1L 96.35 1
    RRM2B 99.97 1
    SALL1 100.00 1
    SALL4 100.00 1
    SARS2 99.99 1
    SCARB2 99.99 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SDCCAG8 100.00 1
    SDHB 97.32 1
    SDHD 82.93 1
    SEC61A1 99.99 1
    SEC63 99.84 1
    SGPL1 99.95 1
    SIX1 100.00 1
    SIX2 100.00 1
    SIX5 100.00 1
    SLC12A1 99.90 1
    SLC12A3 99.84 1
    SLC22A12 99.99 1
    SLC26A1 100.00 1
    SLC26A3 99.97 1
    SLC2A2 99.96 1
    SLC2A9 99.98 1
    SLC34A1 99.99 1
    SLC34A3 100.00 1
    SLC37A4 99.90 1
    SLC3A1 99.98 1
    SLC41A1 99.98 1
    SLC4A1 99.94 1
    SLC4A4 99.97 1
    SLC7A9 99.97 1
    NHERF1 100.00 1
    SMARCAL1 99.97 1
    SOX17 100.00 1
    SRGAP1 99.68 1
    STRADA 99.98 1
    STX16 100.00 1
    SYNPO 100.00 1
    TBC1D1 99.96 1
    TBC1D8B 99.31 1
    TBX18 99.50 1
    TCTN1 99.92 1
    TCTN2 99.99 1
    TCTN3 99.92 1
    THBD 100.00 1
    TMEM107 100.00 1
    TMEM138 100.00 1
    TMEM216 99.98 1
    TMEM231 88.88 1
    TMEM237 99.30 1
    TMEM67 99.69 1
    TNFRSF25 99.98 1
    TNXB 90.86 1
    TP53RK 81.09 1
    TRAP1 100.00 1
    TRIM32 100.00 1
    TRPC6 99.99 1
    TRPM6 99.93 1
    TSC1 99.99 1
    TSC2 99.98 1
    TTC21B 99.50 1
    TTC8 99.67 1
    UMOD 99.98 1
    UPK3A 100.00 1
    UPK3B 99.62 1
    VDR 99.86 1
    VHL 100.00 1
    VIPAS39 99.87 1
    VPS33B 99.95 1
    WDPCP 99.87 1
    WDR19 99.80 1
    WDR35 99.92 1
    WDR4 99.95 1
    WDR73 99.92 1
    WNK1 99.98 1
    WNK4 99.98 1
    WNT4 99.94 1
    WT1 99.99 1
    XDH 99.97 1
    XPNPEP3 99.99 1
    XPO5 99.89 1
    YRDC 99.85 1
    ZMPSTE24 98.70 1
    ZMYM2 99.88 1
    ZNF423 98.94 1
  • Panel Nephro-ULG-V1
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 97.24 0 ,
    ACTG2 100.00 0 ,
    ACTN4 100.00 0 ,
    ADAMTS13 96.63 0 ,
    ADAMTS9 100.00 0 ,
    ADCY10 100.00 0 ,
    AGT 100.00 0 ,
    AGTR1 100.00 0 ,
    AGXT 100.00 0 ,
    ALDOB 100.00 0 ,
    ALG5 100.00 0 ,
    ALG8 100.00 0 ,
    ALG9 99.28 0 ,
    ALMS1 100.00 0 ,
    ALPL 100.00 0 ,
    AMN 86.23 0 ,
    ANKS6 91.46 0 ,
    ANLN 100.00 0 ,
    ANOS1 94.70 0 ,
    AP2S1 100.00 0 ,
    APOA1 100.00 0 ,
    APOL1 100.00 0 ,
    APRT 100.00 0 ,
    AQP2 100.00 0 ,
    ARHGAP24 99.80 0 ,
    ARHGDIA 100.00 0 ,
    ARL6 100.00 0 ,
    ATP6V0A4 100.00 0 ,
    ATP6V1B1 100.00 0 ,
    ATP7B 100.00 0 ,
    ATXN10 99.92 0 ,
    AVIL 100.00 0 ,
    AVPR2 100.00 0 ,
    B2M 100.00 0 ,
    B9D1 100.00 0 ,
    B9D2 100.00 0 ,
    BBIP1 100.00 0 ,
    BBS1 100.00 0 ,
    BBS10 100.00 0 ,
    BBS12 100.00 0 ,
    BBS2 100.00 0 ,
    BBS4 100.00 0 ,
    BBS5 100.00 0 ,
    BBS7 100.00 0 ,
    BBS9 100.00 0 ,
    BICC1 99.81 0 ,
    BMP4 100.00 0 ,
    BMP7 100.00 0 ,
    BNC2 100.00 0 ,
    BSND 100.00 0 ,
    C3 100.00 0 ,
    CA2 100.00 0 ,
    CASR 100.00 0 ,
    CC2D2A 100.00 0 ,
    CD151 100.00 0 ,
    CD2AP 100.00 0 ,
    CD46 100.00 0 ,
    CDC5L 100.00 0 ,
    CDC73 100.00 0 ,
    CENPF 100.00 0 ,
    CEP164 100.00 0 ,
    CEP290 99.95 0 ,
    CEP41 100.00 0 ,
    CEP55 100.00 0 ,
    CEP83 100.00 0 ,
    CFB 100.00 0 ,
    CFH 100.00 0 ,
    CFHR1 95.06 0 ,
    CFHR3 99.44 0 ,
    CFHR5 100.00 0 ,
    CFI 100.00 0 ,
    CHD1L 99.95 0 ,
    CHD7 100.00 0 ,
    CHRM3 100.00 0 ,
    CHRNA3 99.35 0 ,
    CLCN5 100.00 0 ,
    CLCNKA 100.00 0 ,
    CLCNKB 100.00 0 ,
    CLDN10 100.00 0 ,
    CLDN16 100.00 0 ,
    CLDN19 100.00 0 ,
    CNNM2 99.42 0 ,
    COL4A1 99.52 0 ,
    COL4A3 99.47 0 ,
    COL4A4 100.00 0 ,
    COL4A5 99.90 0 ,
    COL4A6 99.82 0 ,
    COQ2 95.50 0 ,
    COQ6 100.00 0 ,
    COQ8A 100.00 0 ,
    COQ8B 100.00 0 ,
    CRB2 94.59 0 ,
    CSPP1 100.00 0 ,
    CTNS 100.00 0 ,
    CTU2 98.44 0 ,
    CUBN 100.00 0 ,
    CUL3 100.00 0 ,
    CYP24A1 100.00 0 ,
    DAAM2 100.00 0 ,
    DCDC2 100.00 0 ,
    DGKE 100.00 0 ,
    DHCR7 99.99 0 ,
    DIS3L2 100.00 0 ,
    DMP1 100.00 0 ,
    DNAJB11 100.00 0 ,
    DSTYK 100.00 0 ,
    DYNC2H1 99.97 0 ,
    DZIP1L 100.00 0 ,
    EGF 100.00 0 ,
    EGFR 99.63 0 ,
    EHHADH 100.00 0 ,
    EMP2 100.00 0 ,
    EYA1 100.00 0 ,
    FAH 100.00 0 ,
    FAM20A 99.78 0 ,
    CCNQ 82.12 0 ,
    FAN1 100.00 0 ,
    FAT1 100.00 0 ,
    FGA 100.00 0 ,
    FGF20 99.13 0 ,
    FGF23 100.00 0 ,
    FH 100.00 0 ,
    FLCN 100.00 0 ,
    FN1 99.98 0 ,
    FRAS1 100.00 0 ,
    FREM1 100.00 0 ,
    FREM2 100.00 0 ,
    FXYD2 100.00 0 ,
    G6PC1 100.00 0 ,
    GALT 100.00 0 ,
    GANAB 100.00 0 ,
    GATA3 100.00 0 ,
    GATM 100.00 0 ,
    GLA 100.00 0 ,
    GLI3 100.00 0 ,
    GLIS2 100.00 0 ,
    GNA11 99.87 0 ,
    GPC3 99.84 0 ,
    GREB1L 100.00 0 ,
    GRHPR 100.00 0 ,
    GRIP1 100.00 0 ,
    GSN 100.00 0 ,
    HAAO 100.00 0 ,
    HNF1B 100.00 0 ,
    HNF4A 100.00 0 ,
    HOGA1 100.00 0 ,
    HOXA13 71.26 0 ,
    HPRT1 97.10 0 ,
    HPSE2 100.00 0 ,
    HSD11B2 78.40 0 ,
    IFT122 100.00 0 ,
    IFT140 99.96 0 ,
    IFT172 100.00 0 ,
    IFT27 100.00 0 ,
    IFT80 100.00 0 ,
    INF2 99.98 0 ,
    INVS 100.00 0 ,
    IQCB1 100.00 0 ,
    ITGA3 99.70 0 ,
    ITGA8 99.76 0 ,
    JAG1 99.83 0 ,
    KANK1 100.00 0 ,
    KANK2 100.00 0 ,
    KANK4 100.00 0 ,
    KCNA1 100.00 0 ,
    KCNJ1 100.00 0 ,
    KCNJ10 100.00 0 ,
    KCNJ16 100.00 0 ,
    KDM6A 99.90 0 ,
    KL 95.50 0 ,
    KLHL3 100.00 0 ,
    KMT2D 100.00 0 ,
    KYNU 99.98 0 ,
    LAMA5 98.59 0 ,
    LAMB2 100.00 0 ,
    LIFR 100.00 0 ,
    LMX1B 100.00 0 ,
    LRIG2 99.95 0 ,
    LRP2 100.00 0 ,
    LRP4 99.14 0 ,
    LRP5 97.83 0 ,
    LRP6 100.00 0 ,
    LYZ 100.00 0 ,
    LZTFL1 100.00 0 ,
    MAGED2 99.94 0 ,
    MAGI2 93.63 0 ,
    MAPKBP1 100.00 0 ,
    MET 100.00 0 ,
    MKKS 100.00 0 ,
    MKS1 100.00 0 ,
    MMACHC 100.00 0 ,
    MUC1 100.00 0 ,
    MYH9 100.00 0 ,
    MYO1E 100.00 0 ,
    MYOCD 100.00 0 ,
    NADSYN1 100.00 0 ,
    NEK8 100.00 0 ,
    NIPBL 100.00 0 ,
    NOTCH2 100.00 0 ,
    NPHP1 100.00 0 ,
    NPHP3 99.73 0 ,
    NPHP4 100.00 0 ,
    NPHS1 100.00 0 ,
    NPHS2 100.00 0 ,
    NR3C2 100.00 0 ,
    NRIP1 100.00 0 ,
    NUP107 100.00 0 ,
    NUP133 100.00 0 ,
    NUP160 100.00 0 ,
    NUP205 100.00 0 ,
    NUP85 100.00 0 ,
    NUP93 100.00 0 ,
    NXF5 0.00 0 ,
    OCRL 99.96 0 ,
    OFD1 100.00 0 ,
    PAX2 100.00 0 ,
    PBX1 100.00 0 ,
    PCBD1 92.70 0 ,
    PDE6D 100.00 0 ,
    PDSS2 100.00 0 ,
    PHEX 98.98 0 ,
    PKD1 96.86 0 ,
    PKD2 92.32 0 ,
    PKHD1 100.00 0 ,
    PLCE1 100.00 0 ,
    PLG 100.00 0 ,
    PLVAP 100.00 0 ,
    PMM2 100.00 0 ,
    PODXL 90.59 0 ,
    PRKCSH 100.00 0 ,
    PTPRO 100.00 0 ,
    REN 100.00 0 ,
    RET 99.35 0 ,
    ROBO1 100.00 0 ,
    ROBO2 100.00 0 ,
    ROR2 98.01 0 ,
    RPGRIP1L 99.18 0 ,
    RRAGD 99.90 0 ,
    RRM2B 100.00 0 ,
    SALL1 100.00 0 ,
    SARS2 100.00 0 ,
    SCARB2 100.00 0 ,
    SCNN1A 100.00 0 ,
    SCNN1B 100.00 0 ,
    SCNN1G 100.00 0 ,
    SDCCAG8 100.00 0 ,
    SDHB 100.00 0 ,
    SDHD 100.00 0 ,
    SEC61A1 100.00 0 ,
    SEC63 99.95 0 ,
    SGPL1 99.92 0 ,
    SIX1 100.00 0 ,
    SIX2 100.00 0 ,
    SIX5 93.51 0 ,
    SLC12A1 100.00 0 ,
    SLC12A3 100.00 0 ,
    SLC1A1 100.00 0 ,
    SLC22A12 100.00 0 ,
    SLC26A1 100.00 0 ,
    SLC26A3 100.00 0 ,
    SLC2A2 100.00 0 ,
    SLC2A9 100.00 0 ,
    SLC34A1 100.00 0 ,
    SLC34A3 100.00 0 ,
    SLC3A1 100.00 0 ,
    SLC41A1 100.00 0 ,
    SLC4A1 100.00 0 ,
    SLC4A4 100.00 0 ,
    SLC5A2 100.00 0 ,
    SLC6A19 100.00 0 ,
    SLC7A7 100.00 0 ,
    SLC7A9 100.00 0 ,
    NHERF1 100.00 0 ,
    SLIT2 99.95 0 ,
    SMARCAL1 100.00 0 ,
    SOX17 99.26 0 ,
    STRA6 100.00 0 ,
    STX16 100.00 0 ,
    TBC1D1 100.00 0 ,
    TBC1D8B 100.00 0 ,
    TBX18 99.84 0 ,
    TCTN2 100.00 0 ,
    TCTN3 100.00 0 ,
    TFAP2A 100.00 0 ,
    THBD 100.00 0 ,
    TMEM138 100.00 0 ,
    TMEM216 100.00 0 ,
    TMEM231 100.00 0 ,
    TMEM237 100.00 0 ,
    TMEM260 97.92 0 ,
    TMEM67 100.00 0 ,
    TRAP1 95.57 0 ,
    TRIM32 100.00 0 ,
    TRIM8 100.00 0 ,
    TRPC6 100.00 0 ,
    TRPM6 100.00 0 ,
    TSC1 100.00 0 ,
    TSC2 100.00 0 ,
    TTC21B 50.00 0 ,
    TTC8 100.00 0 ,
    TTR 100.00 0 ,
    TULP3 100.00 0 ,
    UMOD 100.00 0 ,
    UPK3A 100.00 0 ,
    VHL 100.00 0 ,
    VIPAS39 100.00 0 ,
    VPS33B 100.00 0 ,
    WBP11 100.00 0 ,
    WDPCP 100.00 0 ,
    WDR19 100.00 0 ,
    WDR35 100.00 0 ,
    WDR73 100.00 0 ,
    WNK1 100.00 0 ,
    WNK4 100.00 0 ,
    WNT4 93.15 0 ,
    WNT5A 88.79 0 ,
    WT1 95.16 0 ,
    XDH 100.00 0 ,
    XPNPEP3 100.00 0 ,
    XPO5 99.80 0 ,
    ZIC3 100.00 0 ,
    ZMYM2 99.97 0 ,
    ZNF423 100.00 0 ,