1. Analytes
  2. BBIP1

BBIP1

Analyte Export to PDF
Name:
BBSome interacting protein 1
Symbol:
BBIP1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
BBIP10
BBS18
bA348N5.3
XREF(s):
Orphanet
Ensembl
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
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
  • Congenital malformation (1721 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 0.00 0 ,
    AARS1 0.00 0 ,
    AASS 0.00 0 ,
    ABAT 0.00 0 ,
    ABCA12 0.00 0 ,
    ABCC6 0.00 0 ,
    ABCC9 0.00 0 ,
    ABCD1 0.00 0 ,
    ABCD3 0.00 0 ,
    ABCD4 0.00 0 ,
    ABHD5 0.00 0 ,
    ABL1 0.00 0 ,
    ACAD9 0.00 0 ,
    ACADVL 0.00 0 ,
    ACAN 0.00 0 ,
    ACE 0.00 0 ,
    ACO2 0.00 0 ,
    ACOX1 0.00 0 ,
    ACP5 0.00 0 ,
    ACSL4 0.00 0 ,
    ACTA1 0.00 0 ,
    ACTA2 0.00 0 ,
    ACTB 0.00 0 ,
    ACTC1 0.00 0 ,
    ACTG1 0.00 0 ,
    ACTG2 0.00 0 ,
    ACVR1 0.00 0 ,
    ACVR2B 0.00 0 ,
    ACY1 0.00 0 ,
    ADAMTS10 0.00 0 ,
    ADAMTS17 0.00 0 ,
    ADAMTS3 0.00 0 ,
    ADAMTSL2 0.00 0 ,
    ADAR 0.00 0 ,
    ADGRG1 0.00 0 ,
    ADGRG6 0.00 0 ,
    ADNP 0.00 0 ,
    ADSL 0.00 0 ,
    AFF3 0.00 0 ,
    AFF4 0.00 0 ,
    AGK 0.00 0 ,
    AGL 0.00 0 ,
    AGPS 0.00 0 ,
    AHCY 0.00 0 ,
    AHDC1 0.00 0 ,
    AHI1 0.00 0 ,
    AIFM1 0.00 0 ,
    AIMP1 0.00 0 ,
    AIPL1 0.00 0 ,
    AIRE 0.00 0 ,
    AKR1C2 0.00 0 ,
    AKT1 0.00 0 ,
    AKT2 0.00 0 ,
    AKT3 0.00 0 ,
    ALDH18A1 0.00 0 ,
    ALDH1A3 0.00 0 ,
    ALDH3A2 0.00 0 ,
    ALDH7A1 0.00 0 ,
    ALDOA 0.00 0 ,
    ALG1 0.00 0 ,
    ALG11 0.00 0 ,
    ALG12 0.00 0 ,
    ALG13 0.00 0 ,
    ALG2 0.00 0 ,
    ALG3 0.00 0 ,
    ALG6 0.00 0 ,
    ALG8 0.00 0 ,
    ALG9 0.00 0 ,
    ALMS1 0.00 0 ,
    ALOX12B 0.00 0 ,
    ALOXE3 0.00 0 ,
    ALPL 0.00 0 ,
    ALX1 0.00 0 ,
    ALX3 0.00 0 ,
    ALX4 0.00 0 ,
    AMACR 0.00 0 ,
    AMBRA1 0.00 0 ,
    AMER1 0.00 0 ,
    AMMECR1 0.00 0 ,
    AMPD2 0.00 0 ,
    AMT 0.00 0 ,
    ANAPC1 0.00 0 ,
    ANKH 0.00 0 ,
    ANKRD11 0.00 0 ,
    ANKRD26 0.00 0 ,
    ANKS6 0.00 0 ,
    ANOS1 0.00 0 ,
    ANTXR1 0.00 0 ,
    ANTXR2 0.00 0 ,
    AP1S2 0.00 0 ,
    AP3B2 0.00 0 ,
    AP4B1 0.00 0 ,
    AP4E1 0.00 0 ,
    AP4M1 0.00 0 ,
    AP4S1 0.00 0 ,
    AR 0.00 0 ,
    ARCN1 0.00 0 ,
    ARFGEF2 0.00 0 ,
    ARHGAP29 0.00 0 ,
    ARHGAP31 0.00 0 ,
    ARID1A 0.00 0 ,
    ARID1B 0.00 0 ,
    ARID2 0.00 0 ,
    ARL13B 0.00 0 ,
    ARL3 0.00 0 ,
    ARL6 0.00 0 ,
    ODAD2 0.00 0 ,
    ARMC9 0.00 0 ,
    ARSA 0.00 0 ,
    SLURP1 0.00 0 ,
    ARSL 0.00 0 ,
    ARVCF 0.00 0 ,
    ARX 0.00 0 ,
    ASAH1 0.00 0 ,
    ASCC1 0.00 0 ,
    ASNS 0.00 0 ,
    ASPA 0.00 0 ,
    ASPH 0.00 0 ,
    ASPM 0.00 0 ,
    ASS1 0.00 0 ,
    ASXL1 0.00 0 ,
    ASXL2 0.00 0 ,
    ASXL3 0.00 0 ,
    ATAD3A 0.00 0 ,
    ATIC 0.00 0 ,
    ATL1 0.00 0 ,
    ATM 0.00 0 ,
    ATP1A2 0.00 0 ,
    ATP6V0A2 0.00 0 ,
    ATP6V1B2 0.00 0 ,
    ATP7A 0.00 0 ,
    ATP8A2 0.00 0 ,
    ATRX 0.00 0 ,
    ATXN10 0.00 0 ,
    AVIL 0.00 0 ,
    B3GALNT2 0.00 0 ,
    B3GALT6 0.00 0 ,
    B3GAT3 0.00 0 ,
    B3GLCT 0.00 0 ,
    B4GALT1 0.00 0 ,
    B4GALT7 0.00 0 ,
    B4GAT1 0.00 0 ,
    B9D1 0.00 0 ,
    B9D2 0.00 0 ,
    BANF1 0.00 0 ,
    BBIP1 0.00 0 ,
    BBS1 0.00 0 ,
    BBS10 0.00 0 ,
    BBS12 0.00 0 ,
    BBS2 0.00 0 ,
    BBS4 0.00 0 ,
    BBS5 0.00 0 ,
    BBS7 0.00 0 ,
    BBS9 0.00 0 ,
    BCAP31 0.00 0 ,
    BCL11A 0.00 0 ,
    BCL9L 0.00 0 ,
    BCOR 0.00 0 ,
    BCS1L 0.00 0 ,
    BDNF 0.00 0 ,
    BFSP2 0.00 0 ,
    BGN 0.00 0 ,
    BHLHA9 0.00 0 ,
    BICC1 0.00 0 ,
    BICD2 0.00 0 ,
    BIN1 0.00 0 ,
    BLM 0.00 0 ,
    BLOC1S6 0.00 0 ,
    BMP1 0.00 0 ,
    BMP2 0.00 0 ,
    BMP4 0.00 0 ,
    BMPER 0.00 0 ,
    BMPR1B 0.00 0 ,
    BNC2 0.00 0 ,
    BOLA3 0.00 0 ,
    BPTF 0.00 0 ,
    BRAF 0.00 0 ,
    BRAT1 0.00 0 ,
    BRCA2 0.00 0 ,
    BRIP1 0.00 0 ,
    BRPF1 0.00 0 ,
    BSND 0.00 0 ,
    BTD 0.00 0 ,
    BUB1 0.00 0 ,
    BUB1B 0.00 0 ,
    BUB3 0.00 0 ,
    C12ORF57 0.00 0 ,
    MTRFR 0.00 0 ,
    C1QBP 0.00 0 ,
    MFRP 0.00 0 ,
    C2CD3 0.00 0 ,
    C4BPA 0.00 0 ,
    C4BPB 0.00 0 ,
    CFAP418 0.00 0 ,
    CA2 0.00 0 ,
    CA5A 0.00 0 ,
    CA8 0.00 0 ,
    CACNA1A 0.00 0 ,
    CACNA1C 0.00 0 ,
    CACNA1D 0.00 0 ,
    CACNA1E 0.00 0 ,
    CACNA1G 0.00 0 ,
    CAMK2A 0.00 0 ,
    CAMK2B 0.00 0 ,
    CAMTA1 0.00 0 ,
    CANT1 0.00 0 ,
    CARS2 0.00 0 ,
    CASK 0.00 0 ,
    CASR 0.00 0 ,
    CBL 0.00 0 ,
    CC2D2A 0.00 0 ,
    CCBE1 0.00 0 ,
    CCDC103 0.00 0 ,
    ODAD1 0.00 0 ,
    ODAD3 0.00 0 ,
    CCDC22 0.00 0 ,
    CCDC28B 0.00 0 ,
    CCDC39 0.00 0 ,
    CCDC40 0.00 0 ,
    CCDC78 0.00 0 ,
    CCDC8 0.00 0 ,
    CCDC88C 0.00 0 ,
    CCM2 0.00 0 ,
    CCND2 0.00 0 ,
    CCNQ 0.00 0 ,
    CD151 0.00 0 ,
    CD55 0.00 0 ,
    CD96 0.00 0 ,
    CDAN1 0.00 0 ,
    CDC45 0.00 0 ,
    CDC6 0.00 0 ,
    CDC73 0.00 0 ,
    CDH1 0.00 0 ,
    CDH11 0.00 0 ,
    CDH3 0.00 0 ,
    CDK13 0.00 0 ,
    CDK5RAP2 0.00 0 ,
    CDK8 0.00 0 ,
    CDKL5 0.00 0 ,
    CDKN1C 0.00 0 ,
    CDON 0.00 0 ,
    CDT1 0.00 0 ,
    CELSR1 0.00 0 ,
    CENPF 0.00 0 ,
    CENPJ 0.00 0 ,
    CEP104 0.00 0 ,
    CEP120 0.00 0 ,
    CEP135 0.00 0 ,
    CEP152 0.00 0 ,
    CEP164 0.00 0 ,
    CEP290 0.00 0 ,
    CEP41 0.00 0 ,
    CEP55 0.00 0 ,
    CEP57 0.00 0 ,
    CEP63 0.00 0 ,
    CEP83 0.00 0 ,
    CERS3 0.00 0 ,
    CERT1 0.00 0 ,
    CFAP298 0.00 0 ,
    CFAP300 0.00 0 ,
    CFAP410 0.00 0 ,
    CFAP53 0.00 0 ,
    CFC1 0.00 0 ,
    CFHR2 0.00 0 ,
    CFL2 0.00 0 ,
    CFTR 0.00 0 ,
    CHAMP1 0.00 0 ,
    CHAT 0.00 0 ,
    CHD3 0.00 0 ,
    CHD4 0.00 0 ,
    CHD7 0.00 0 ,
    CHD8 0.00 0 ,
    CHKB 0.00 0 ,
    CHMP1A 0.00 0 ,
    CHN1 0.00 0 ,
    CHRNA1 0.00 0 ,
    CHRNA3 0.00 0 ,
    CHRNB1 0.00 0 ,
    CHRNB2 0.00 0 ,
    CHRND 0.00 0 ,
    CHRNE 0.00 0 ,
    CHRNG 0.00 0 ,
    CHST11 0.00 0 ,
    CHST14 0.00 0 ,
    CHST3 0.00 0 ,
    CHSY1 0.00 0 ,
    CHUK 0.00 0 ,
    CILK1 0.00 0 ,
    CIT 0.00 0 ,
    CKAP2L 0.00 0 ,
    CLCN7 0.00 0 ,
    CLCNKB 0.00 0 ,
    CLDN10 0.00 0 ,
    CLMP 0.00 0 ,
    CLP1 0.00 0 ,
    CLPB 0.00 0 ,
    CLPP 0.00 0 ,
    CLTC 0.00 0 ,
    CNKSR2 0.00 0 ,
    CNOT1 0.00 0 ,
    CNOT3 0.00 0 ,
    CNTN1 0.00 0 ,
    CNTNAP1 0.00 0 ,
    CNTNAP2 0.00 0 ,
    COASY 0.00 0 ,
    COG1 0.00 0 ,
    COG4 0.00 0 ,
    COG5 0.00 0 ,
    COG6 0.00 0 ,
    COG7 0.00 0 ,
    COG8 0.00 0 ,
    COL10A1 0.00 0 ,
    COL11A1 0.00 0 ,
    COL11A2 0.00 0 ,
    COL12A1 0.00 0 ,
    COL13A1 0.00 0 ,
    COL18A1 0.00 0 ,
    COL1A1 0.00 0 ,
    COL1A2 0.00 0 ,
    COL25A1 0.00 0 ,
    COL2A1 0.00 0 ,
    COL3A1 0.00 0 ,
    COL4A1 0.00 0 ,
    COL4A2 0.00 0 ,
    COL5A1 0.00 0 ,
    COL5A2 0.00 0 ,
    COL6A1 0.00 0 ,
    COL6A2 0.00 0 ,
    COL6A3 0.00 0 ,
    COL7A1 0.00 0 ,
    COL9A1 0.00 0 ,
    COL9A2 0.00 0 ,
    COLEC10 0.00 0 ,
    COLEC11 0.00 0 ,
    COLQ 0.00 0 ,
    COMT 0.00 0 ,
    COQ4 0.00 0 ,
    COQ7 0.00 0 ,
    COQ9 0.00 0 ,
    COX7B 0.00 0 ,
    CPAMD8 0.00 0 ,
    CPLANE1 0.00 0 ,
    CPT2 0.00 0 ,
    CRADD 0.00 0 ,
    CRB1 0.00 0 ,
    CRB2 0.00 0 ,
    CREB3L1 0.00 0 ,
    CREBBP 0.00 0 ,
    CRELD1 0.00 0 ,
    CRH 0.00 0 ,
    CRIPT 0.00 0 ,
    CRLF1 0.00 0 ,
    CRPPA 0.00 0 ,
    CRTAP 0.00 0 ,
    CRX 0.00 0 ,
    CRYAA 0.00 0 ,
    CRYBA1 0.00 0 ,
    CRYBA4 0.00 0 ,
    CRYBB1 0.00 0 ,
    CRYBB2 0.00 0 ,
    CRYBB3 0.00 0 ,
    CRYGC 0.00 0 ,
    CRYGD 0.00 0 ,
    CSF1R 0.00 0 ,
    CSNK2A1 0.00 0 ,
    CSPP1 0.00 0 ,
    CSTA 0.00 0 ,
    CTC1 0.00 0 ,
    CTCF 0.00 0 ,
    CTDP1 0.00 0 ,
    CTNNB1 0.00 0 ,
    CTNND1 0.00 0 ,
    CTNS 0.00 0 ,
    CTSA 0.00 0 ,
    CTSD 0.00 0 ,
    CTSK 0.00 0 ,
    CTU2 0.00 0 ,
    CUL4B 0.00 0 ,
    CUL7 0.00 0 ,
    CUX2 0.00 0 ,
    CWC27 0.00 0 ,
    CXCR4 0.00 0 ,
    CYB5R3 0.00 0 ,
    CYP11A1 0.00 0 ,
    CYP11B1 0.00 0 ,
    CYP17A1 0.00 0 ,
    CYP19A1 0.00 0 ,
    CYP1B1 0.00 0 ,
    CYP21A2 0.00 0 ,
    CYP26B1 0.00 0 ,
    CYP2U1 0.00 0 ,
    CYP4F22 0.00 0 ,
    DACH1 0.00 0 ,
    DAG1 0.00 0 ,
    DARS1 0.00 0 ,
    DCC 0.00 0 ,
    DCDC2 0.00 0 ,
    DCHS1 0.00 0 ,
    DCX 0.00 0 ,
    DDHD2 0.00 0 ,
    DDR2 0.00 0 ,
    DDX11 0.00 0 ,
    DDX3X 0.00 0 ,
    DDX59 0.00 0 ,
    DDX6 0.00 0 ,
    DENND5A 0.00 0 ,
    DHCR24 0.00 0 ,
    DHCR7 0.00 0 ,
    DHDDS 0.00 0 ,
    DHFR 0.00 0 ,
    DHH 0.00 0 ,
    DHODH 0.00 0 ,
    DHTKD1 0.00 0 ,
    DHX30 0.00 0 ,
    DIAPH1 0.00 0 ,
    DIS3L2 0.00 0 ,
    DISP1 0.00 0 ,
    DKC1 0.00 0 ,
    DLG4 0.00 0 ,
    DLL3 0.00 0 ,
    DLL4 0.00 0 ,
    DLX5 0.00 0 ,
    DMD 0.00 0 ,
    DMPK 0.00 0 ,
    DNAAF1 0.00 0 ,
    DNAAF2 0.00 0 ,
    DNAAF3 0.00 0 ,
    DNAAF4 0.00 0 ,
    DNAAF5 0.00 0 ,
    DNAH11 0.00 0 ,
    DNAH5 0.00 0 ,
    DNAH9 0.00 0 ,
    DNAI1 0.00 0 ,
    DNAI2 0.00 0 ,
    DNAJB11 0.00 0 ,
    DNAJC12 0.00 0 ,
    DNAJC19 0.00 0 ,
    DNM1 0.00 0 ,
    DNM1L 0.00 0 ,
    DNM2 0.00 0 ,
    DNMT3A 0.00 0 ,
    DNMT3B 0.00 0 ,
    DOCK6 0.00 0 ,
    DOCK7 0.00 0 ,
    DOK7 0.00 0 ,
    DOLK 0.00 0 ,
    DONSON 0.00 0 ,
    DPAGT1 0.00 0 ,
    DPF2 0.00 0 ,
    DPH1 0.00 0 ,
    DPM1 0.00 0 ,
    DPM2 0.00 0 ,
    DPM3 0.00 0 ,
    DPYD 0.00 0 ,
    DRC1 0.00 0 ,
    DSG1 0.00 0 ,
    DSP 0.00 0 ,
    DSTYK 0.00 0 ,
    DUSP6 0.00 0 ,
    DVL1 0.00 0 ,
    DVL3 0.00 0 ,
    DYM 0.00 0 ,
    DYNC1H1 0.00 0 ,
    DYNC2H1 0.00 0 ,
    DYNC2LI1 0.00 0 ,
    DYRK1A 0.00 0 ,
    DZIP1L 0.00 0 ,
    EARS2 0.00 0 ,
    EBF3 0.00 0 ,
    GLB1 0.00 0 ,
    ECEL1 0.00 0 ,
    EDA 0.00 0 ,
    EDN1 0.00 0 ,
    EDNRA 0.00 0 ,
    EDNRB 0.00 0 ,
    EED 0.00 0 ,
    EEF1A2 0.00 0 ,
    EFL1 0.00 0 ,
    EFNB1 0.00 0 ,
    EFTUD2 0.00 0 ,
    EGR2 0.00 0 ,
    EHBP1L1 0.00 0 ,
    EHHADH 0.00 0 ,
    EHMT1 0.00 0 ,
    EIF2AK3 0.00 0 ,
    EIF2B2 0.00 0 ,
    EIF2B3 0.00 0 ,
    EIF2S3 0.00 0 ,
    EIF4A3 0.00 0 ,
    EIF5A 0.00 0 ,
    ELAC2 0.00 0 ,
    ELMO2 0.00 0 ,
    ELN 0.00 0 ,
    ELOVL4 0.00 0 ,
    EMC1 0.00 0 ,
    EMD 0.00 0 ,
    EMG1 0.00 0 ,
    EML1 0.00 0 ,
    EMX2 0.00 0 ,
    ENPP1 0.00 0 ,
    EOGT 0.00 0 ,
    EP300 0.00 0 ,
    EPG5 0.00 0 ,
    EPHB4 0.00 0 ,
    EPHX1 0.00 0 ,
    ERBB3 0.00 0 ,
    ERCC1 0.00 0 ,
    ERCC2 0.00 0 ,
    ERCC3 0.00 0 ,
    ERCC4 0.00 0 ,
    ERCC5 0.00 0 ,
    ERCC6 0.00 0 ,
    ERCC8 0.00 0 ,
    ERF 0.00 0 ,
    ERGIC1 0.00 0 ,
    ERLIN2 0.00 0 ,
    ESCO2 0.00 0 ,
    ESRRG 0.00 0 ,
    ETFA 0.00 0 ,
    ETFB 0.00 0 ,
    ETFDH 0.00 0 ,
    EVC 0.00 0 ,
    EVC2 0.00 0 ,
    EXOC3L2 0.00 0 ,
    EXOSC3 0.00 0 ,
    EXPH5 0.00 0 ,
    EXT1 0.00 0 ,
    EXT2 0.00 0 ,
    EXTL3 0.00 0 ,
    EYA1 0.00 0 ,
    EZH2 0.00 0 ,
    FA2H 0.00 0 ,
    FANCA 0.00 0 ,
    FAM111A 0.00 0 ,
    HYCC1 0.00 0 ,
    FAM20A 0.00 0 ,
    FAM20C 0.00 0 ,
    FANCB 0.00 0 ,
    FANCC 0.00 0 ,
    FANCD2 0.00 0 ,
    FANCE 0.00 0 ,
    FANCF 0.00 0 ,
    FANCG 0.00 0 ,
    FANCI 0.00 0 ,
    FANCL 0.00 0 ,
    FANCM 0.00 0 ,
    FAR1 0.00 0 ,
    FAT4 0.00 0 ,
    FBLN5 0.00 0 ,
    FBN1 0.00 0 ,
    FBN2 0.00 0 ,
    FBXL4 0.00 0 ,
    FEZF1 0.00 0 ,
    FGD1 0.00 0 ,
    FGF10 0.00 0 ,
    FGF17 0.00 0 ,
    FGF3 0.00 0 ,
    FGF8 0.00 0 ,
    FGF9 0.00 0 ,
    FGFR1 0.00 0 ,
    FGFR2 0.00 0 ,
    FGFR3 0.00 0 ,
    FGG 0.00 0 ,
    FH 0.00 0 ,
    FIG4 0.00 0 ,
    FKBP10 0.00 0 ,
    FKBP14 0.00 0 ,
    FKBP8 0.00 0 ,
    FKRP 0.00 0 ,
    FKTN 0.00 0 ,
    FLNA 0.00 0 ,
    FLNB 0.00 0 ,
    FLNC 0.00 0 ,
    FLRT3 0.00 0 ,
    FLT4 0.00 0 ,
    FLVCR2 0.00 0 ,
    FMN2 0.00 0 ,
    FN1 0.00 0 ,
    FOLR1 0.00 0 ,
    FOXC1 0.00 0 ,
    FOXC2 0.00 0 ,
    FOXE1 0.00 0 ,
    FOXE3 0.00 0 ,
    FOXF1 0.00 0 ,
    FOXG1 0.00 0 ,
    FOXL2 0.00 0 ,
    FOXP2 0.00 0 ,
    FOXP3 0.00 0 ,
    FOXP4 0.00 0 ,
    FOXRED1 0.00 0 ,
    FRAS1 0.00 0 ,
    FREM1 0.00 0 ,
    FREM2 0.00 0 ,
    FRMD4A 0.00 0 ,
    FRMPD4 0.00 0 ,
    FRRS1L 0.00 0 ,
    FTL 0.00 0 ,
    FTO 0.00 0 ,
    FUCA1 0.00 0 ,
    FUT8 0.00 0 ,
    FUZ 0.00 0 ,
    FYCO1 0.00 0 ,
    FZD2 0.00 0 ,
    FZD5 0.00 0 ,
    G6PC3 0.00 0 ,
    GAA 0.00 0 ,
    GABRA1 0.00 0 ,
    GABRB2 0.00 0 ,
    GABRG2 0.00 0 ,
    GALC 0.00 0 ,
    GALE 0.00 0 ,
    GALK1 0.00 0 ,
    GALNS 0.00 0 ,
    GALNT2 0.00 0 ,
    GANAB 0.00 0 ,
    GATA1 0.00 0 ,
    GATA2 0.00 0 ,
    GATA3 0.00 0 ,
    GATA4 0.00 0 ,
    GATA6 0.00 0 ,
    GBA1 0.00 0 ,
    GBA2 0.00 0 ,
    GBE1 0.00 0 ,
    GCDH 0.00 0 ,
    GCSH 0.00 0 ,
    GDF1 0.00 0 ,
    GDF3 0.00 0 ,
    GDF5 0.00 0 ,
    GDF6 0.00 0 ,
    GFAP 0.00 0 ,
    GFM1 0.00 0 ,
    GFPT1 0.00 0 ,
    GFRA1 0.00 0 ,
    GJA1 0.00 0 ,
    GJA3 0.00 0 ,
    GJA8 0.00 0 ,
    GJB2 0.00 0 ,
    GJC2 0.00 0 ,
    GLA 0.00 0 ,
    GLDC 0.00 0 ,
    GLDN 0.00 0 ,
    GLE1 0.00 0 ,
    GLI1 0.00 0 ,
    GLI2 0.00 0 ,
    GLI3 0.00 0 ,
    GLIS2 0.00 0 ,
    GLIS3 0.00 0 ,
    GLUL 0.00 0 ,
    GM2A 0.00 0 ,
    GMNN 0.00 0 ,
    GMPPB 0.00 0 ,
    GNA11 0.00 0 ,
    GNA14 0.00 0 ,
    GNAI1 0.00 0 ,
    GNAI3 0.00 0 ,
    GNAO1 0.00 0 ,
    GNAQ 0.00 0 ,
    GNAS 0.00 0 ,
    GNB1 0.00 0 ,
    GNB5 0.00 0 ,
    GNPAT 0.00 0 ,
    GNPTAB 0.00 0 ,
    GNPTG 0.00 0 ,
    GNS 0.00 0 ,
    GORAB 0.00 0 ,
    GP1BB 0.00 0 ,
    GPAA1 0.00 0 ,
    GPC3 0.00 0 ,
    GPC6 0.00 0 ,
    GPI 0.00 0 ,
    GPKOW 0.00 0 ,
    GPSM2 0.00 0 ,
    GPX4 0.00 0 ,
    GREB1L 0.00 0 ,
    GRHL2 0.00 0 ,
    GRHL3 0.00 0 ,
    GRIN1 0.00 0 ,
    GRIN2B 0.00 0 ,
    GRIN2D 0.00 0 ,
    GRIP1 0.00 0 ,
    GRM1 0.00 0 ,
    GSC 0.00 0 ,
    GSPT2 0.00 0 ,
    GTF2E2 0.00 0 ,
    GTF2H5 0.00 0 ,
    GTPBP3 0.00 0 ,
    GUCY2C 0.00 0 ,
    GUCY2D 0.00 0 ,
    GUSB 0.00 0 ,
    GZF1 0.00 0 ,
    H1-4 0.00 0 ,
    H4C3 0.00 0 ,
    HAAO 0.00 0 ,
    HADHA 0.00 0 ,
    HADHB 0.00 0 ,
    HBA1 0.00 0 ,
    HBA2 0.00 0 ,
    HCCS 0.00 0 ,
    HCFC1 0.00 0 ,
    HDAC8 0.00 0 ,
    HES7 0.00 0 ,
    HESX1 0.00 0 ,
    HGSNAT 0.00 0 ,
    HIBCH 0.00 0 ,
    HIRA 0.00 0 ,
    HIVEP2 0.00 0 ,
    HLX 0.00 0 ,
    HMGA2 0.00 0 ,
    HMX1 0.00 0 ,
    HNF1B 0.00 0 ,
    HNF4A 0.00 0 ,
    HNRNPH2 0.00 0 ,
    HNRNPK 0.00 0 ,
    HOXA1 0.00 0 ,
    HOXA11 0.00 0 ,
    HOXA13 0.00 0 ,
    HOXA2 0.00 0 ,
    HOXB1 0.00 0 ,
    HOXD13 0.00 0 ,
    HPD 0.00 0 ,
    HPGD 0.00 0 ,
    HPSE2 0.00 0 ,
    HR 0.00 0 ,
    HRAS 0.00 0 ,
    HS6ST1 0.00 0 ,
    HSD17B3 0.00 0 ,
    HSD17B4 0.00 0 ,
    HSF4 0.00 0 ,
    HSPD1 0.00 0 ,
    HSPG2 0.00 0 ,
    HUWE1 0.00 0 ,
    HYAL1 0.00 0 ,
    HYLS1 0.00 0 ,
    IARS1 0.00 0 ,
    IBA57 0.00 0 ,
    IDH1 0.00 0 ,
    IDS 0.00 0 ,
    IDUA 0.00 0 ,
    IER3IP1 0.00 0 ,
    IFIH1 0.00 0 ,
    IFITM5 0.00 0 ,
    IFT122 0.00 0 ,
    IFT140 0.00 0 ,
    IFT172 0.00 0 ,
    IFT27 0.00 0 ,
    IFT43 0.00 0 ,
    IFT52 0.00 0 ,
    IFT80 0.00 0 ,
    IFT81 0.00 0 ,
    IFT88 0.00 0 ,
    IGBP1 0.00 0 ,
    IGF1 0.00 0 ,
    IGF1R 0.00 0 ,
    IGF2 0.00 0 ,
    IGFBP7 0.00 0 ,
    IGHMBP2 0.00 0 ,
    IHH 0.00 0 ,
    IKBKG 0.00 0 ,
    IL11RA 0.00 0 ,
    IL17RD 0.00 0 ,
    IL1RAPL1 0.00 0 ,
    BPNT2 0.00 0 ,
    IMPDH1 0.00 0 ,
    INCENP 0.00 0 ,
    INPP5B 0.00 0 ,
    INPP5E 0.00 0 ,
    INPP5K 0.00 0 ,
    INPPL1 0.00 0 ,
    INSR 0.00 0 ,
    INTU 0.00 0 ,
    INVS 0.00 0 ,
    IQCB1 0.00 0 ,
    IRF6 0.00 0 ,
    IRX1 0.00 0 ,
    IRX5 0.00 0 ,
    ITCH 0.00 0 ,
    ITGA3 0.00 0 ,
    ITGA6 0.00 0 ,
    ITGA8 0.00 0 ,
    ITGB4 0.00 0 ,
    ITPR1 0.00 0 ,
    JAG1 0.00 0 ,
    JAM3 0.00 0 ,
    JUP 0.00 0 ,
    KANSL1 0.00 0 ,
    KAT6A 0.00 0 ,
    KAT6B 0.00 0 ,
    KATNB1 0.00 0 ,
    KCNA1 0.00 0 ,
    KCNC3 0.00 0 ,
    KCNH1 0.00 0 ,
    KCNJ1 0.00 0 ,
    KCNJ13 0.00 0 ,
    KCNJ2 0.00 0 ,
    KCNJ6 0.00 0 ,
    KCNJ8 0.00 0 ,
    KCNK9 0.00 0 ,
    KCNQ2 0.00 0 ,
    KCNQ5 0.00 0 ,
    KCNT1 0.00 0 ,
    KCTD1 0.00 0 ,
    KCTD7 0.00 0 ,
    KDM1A 0.00 0 ,
    KDM5C 0.00 0 ,
    KDM6A 0.00 0 ,
    KATNIP 0.00 0 ,
    KIAA0586 0.00 0 ,
    KIAA0753 0.00 0 ,
    BLTP1 0.00 0 ,
    KIDINS220 0.00 0 ,
    KIF11 0.00 0 ,
    KIF14 0.00 0 ,
    KIF1A 0.00 0 ,
    KIF22 0.00 0 ,
    KIF26B 0.00 0 ,
    KIF2A 0.00 0 ,
    KIF5C 0.00 0 ,
    KIF7 0.00 0 ,
    KIFBP 0.00 0 ,
    KISS1R 0.00 0 ,
    KLF1 0.00 0 ,
    KLHL40 0.00 0 ,
    KLHL41 0.00 0 ,
    KLHL7 0.00 0 ,
    KMT2A 0.00 0 ,
    KMT2B 0.00 0 ,
    KMT2C 0.00 0 ,
    KMT2D 0.00 0 ,
    KNL1 0.00 0 ,
    KPTN 0.00 0 ,
    KRAS 0.00 0 ,
    KRIT1 0.00 0 ,
    KRT74 0.00 0 ,
    KYNU 0.00 0 ,
    L1CAM 0.00 0 ,
    L2HGDH 0.00 0 ,
    LAGE3 0.00 0 ,
    LAMA1 0.00 0 ,
    LAMA2 0.00 0 ,
    LAMA5 0.00 0 ,
    LAMB1 0.00 0 ,
    LAMC3 0.00 0 ,
    LARGE1 0.00 0 ,
    LARP7 0.00 0 ,
    LARS2 0.00 0 ,
    LBR 0.00 0 ,
    LCA5 0.00 0 ,
    LEMD3 0.00 0 ,
    LFNG 0.00 0 ,
    LGI4 0.00 0 ,
    LHB 0.00 0 ,
    LHX3 0.00 0 ,
    LHX4 0.00 0 ,
    LIAS 0.00 0 ,
    LIFR 0.00 0 ,
    LIG4 0.00 0 ,
    LINS1 0.00 0 ,
    LIPA 0.00 0 ,
    LIPN 0.00 0 ,
    LIPT1 0.00 0 ,
    LIPT2 0.00 0 ,
    LMBR1 0.00 0 ,
    LMBRD1 0.00 0 ,
    LMNA 0.00 0 ,
    LMNB1 0.00 0 ,
    LMNB2 0.00 0 ,
    LMOD3 0.00 0 ,
    LMX1B 0.00 0 ,
    LONP1 0.00 0 ,
    LRAT 0.00 0 ,
    LRBA 0.00 0 ,
    LRIG2 0.00 0 ,
    LRIT3 0.00 0 ,
    LRP2 0.00 0 ,
    CORIN 0.00 0 ,
    LRP5 0.00 0 ,
    LRRC56 0.00 0 ,
    DNAAF11 0.00 0 ,
    LTBP3 0.00 0 ,
    LTBP4 0.00 0 ,
    LYST 0.00 0 ,
    LZTFL1 0.00 0 ,
    LZTR1 0.00 0 ,
    MAB21L2 0.00 0 ,
    MACF1 0.00 0 ,
    MAF 0.00 0 ,
    MAFB 0.00 0 ,
    MAGEL2 0.00 0 ,
    MAMLD1 0.00 0 ,
    MAN1B1 0.00 0 ,
    MANBA 0.00 0 ,
    MAP2K1 0.00 0 ,
    MAP2K2 0.00 0 ,
    MAP3K1 0.00 0 ,
    MAP3K20 0.00 0 ,
    MAP3K7 0.00 0 ,
    MAPKBP1 0.00 0 ,
    MAPRE2 0.00 0 ,
    MASP1 0.00 0 ,
    MAT1A 0.00 0 ,
    MATN3 0.00 0 ,
    MBOAT7 0.00 0 ,
    MBTPS2 0.00 0 ,
    MCOLN1 0.00 0 ,
    MCPH1 0.00 0 ,
    MDH2 0.00 0 ,
    MECOM 0.00 0 ,
    MECP2 0.00 0 ,
    MECR 0.00 0 ,
    MED12 0.00 0 ,
    MED13L 0.00 0 ,
    MED17 0.00 0 ,
    MED28 0.00 0 ,
    MEF2C 0.00 0 ,
    MEGF10 0.00 0 ,
    MEGF8 0.00 0 ,
    MEIS2 0.00 0 ,
    MEOX1 0.00 0 ,
    MESD 0.00 0 ,
    MESP2 0.00 0 ,
    MFSD2A 0.00 0 ,
    MGP 0.00 0 ,
    MID1 0.00 0 ,
    MIPOL1 0.00 0 ,
    MITF 0.00 0 ,
    MKKS 0.00 0 ,
    MKS1 0.00 0 ,
    MLC1 0.00 0 ,
    MLH1 0.00 0 ,
    MLYCD 0.00 0 ,
    MMACHC 0.00 0 ,
    MMADHC 0.00 0 ,
    MMP13 0.00 0 ,
    MMP15 0.00 0 ,
    MMP21 0.00 0 ,
    MN1 0.00 0 ,
    MNX1 0.00 0 ,
    MOCOS 0.00 0 ,
    MOCS1 0.00 0 ,
    MOCS2 0.00 0 ,
    MOGS 0.00 0 ,
    MPDU1 0.00 0 ,
    MPDZ 0.00 0 ,
    MPL 0.00 0 ,
    MPLKIP 0.00 0 ,
    MPZ 0.00 0 ,
    MRAS 0.00 0 ,
    MRPS16 0.00 0 ,
    MRPS22 0.00 0 ,
    MRPS34 0.00 0 ,
    MSH2 0.00 0 ,
    MSH6 0.00 0 ,
    MSL3 0.00 0 ,
    MSMO1 0.00 0 ,
    MSTO1 0.00 0 ,
    MSX1 0.00 0 ,
    MSX2 0.00 0 ,
    MTM1 0.00 0 ,
    MTO1 0.00 0 ,
    MTOR 0.00 0 ,
    MUSK 0.00 0 ,
    MVK 0.00 0 ,
    MYBPC1 0.00 0 ,
    MYCN 0.00 0 ,
    MYH10 0.00 0 ,
    MYH11 0.00 0 ,
    MYH2 0.00 0 ,
    MYH3 0.00 0 ,
    MYH6 0.00 0 ,
    MYH7 0.00 0 ,
    MYH8 0.00 0 ,
    MYH9 0.00 0 ,
    MYL1 0.00 0 ,
    MYL9 0.00 0 ,
    MYLK 0.00 0 ,
    MYMK 0.00 0 ,
    MYO18B 0.00 0 ,
    MYO9A 0.00 0 ,
    MYOCD 0.00 0 ,
    MYOD1 0.00 0 ,
    MYPN 0.00 0 ,
    MYRF 0.00 0 ,
    MYT1 0.00 0 ,
    NAA10 0.00 0 ,
    NAA15 0.00 0 ,
    NACC1 0.00 0 ,
    NADSYN1 0.00 0 ,
    NAGA 0.00 0 ,
    NAGLU 0.00 0 ,
    NALCN 0.00 0 ,
    NANS 0.00 0 ,
    NAXE 0.00 0 ,
    NBAS 0.00 0 ,
    NBN 0.00 0 ,
    NDE1 0.00 0 ,
    NDP 0.00 0 ,
    NDUFA10 0.00 0 ,
    NDUFAF2 0.00 0 ,
    NDUFAF5 0.00 0 ,
    NDUFB11 0.00 0 ,
    NEB 0.00 0 ,
    NECTIN1 0.00 0 ,
    NECTIN4 0.00 0 ,
    NEDD4L 0.00 0 ,
    NEK1 0.00 0 ,
    NEK9 0.00 0 ,
    NEU1 0.00 0 ,
    NEXMIF 0.00 0 ,
    NF1 0.00 0 ,
    NFIX 0.00 0 ,
    NHEJ1 0.00 0 ,
    NHP2 0.00 0 ,
    NHS 0.00 0 ,
    NIN 0.00 0 ,
    NIPAL4 0.00 0 ,
    NIPBL 0.00 0 ,
    NKX2-5 0.00 0 ,
    NKX3-2 0.00 0 ,
    NKX6-2 0.00 0 ,
    NLRC4 0.00 0 ,
    RMRP 0.00 0 ,
    NMNAT1 0.00 0 ,
    NMNAT2 0.00 0 ,
    NODAL 0.00 0 ,
    NOG 0.00 0 ,
    NONO 0.00 0 ,
    NOTCH1 0.00 0 ,
    NOTCH2 0.00 0 ,
    NOVA2 0.00 0 ,
    NPC1 0.00 0 ,
    NPC2 0.00 0 ,
    NPHP1 0.00 0 ,
    NPHP3 0.00 0 ,
    NPHP4 0.00 0 ,
    NPHS1 0.00 0 ,
    NPRL2 0.00 0 ,
    NR0B1 0.00 0 ,
    NR2F2 0.00 0 ,
    NR5A1 0.00 0 ,
    NRAS 0.00 0 ,
    NRXN2 0.00 0 ,
    NSD1 0.00 0 ,
    NSDHL 0.00 0 ,
    NSMF 0.00 0 ,
    NSUN2 0.00 0 ,
    NT5C2 0.00 0 ,
    NTRK2 0.00 0 ,
    NUAK2 0.00 0 ,
    NUBPL 0.00 0 ,
    NUP107 0.00 0 ,
    NUP62 0.00 0 ,
    NUP88 0.00 0 ,
    NUS1 0.00 0 ,
    NXN 0.00 0 ,
    OBSL1 0.00 0 ,
    OCLN 0.00 0 ,
    OCRL 0.00 0 ,
    ODC1 0.00 0 ,
    OFD1 0.00 0 ,
    OPHN1 0.00 0 ,
    SLC25A15 0.00 0 ,
    ORC4 0.00 0 ,
    ORC6 0.00 0 ,
    OSGEP 0.00 0 ,
    OSTM1 0.00 0 ,
    OTUD5 0.00 0 ,
    OTUD6B 0.00 0 ,
    OTX2 0.00 0 ,
    P3H1 0.00 0 ,
    P4HB 0.00 0 ,
    PACS1 0.00 0 ,
    PAFAH1B1 0.00 0 ,
    PAICS 0.00 0 ,
    PAK3 0.00 0 ,
    PALB2 0.00 0 ,
    PAPSS2 0.00 0 ,
    PARN 0.00 0 ,
    PAX2 0.00 0 ,
    PAX3 0.00 0 ,
    PAX6 0.00 0 ,
    PAX7 0.00 0 ,
    PAX8 0.00 0 ,
    PBX1 0.00 0 ,
    PCGF2 0.00 0 ,
    PCNT 0.00 0 ,
    PCYT1A 0.00 0 ,
    PDCD10 0.00 0 ,
    PDE10A 0.00 0 ,
    PDE4D 0.00 0 ,
    PDE6D 0.00 0 ,
    PDE6H 0.00 0 ,
    PDGFB 0.00 0 ,
    PDGFRB 0.00 0 ,
    PDHA1 0.00 0 ,
    PDHB 0.00 0 ,
    PDHX 0.00 0 ,
    PDSS1 0.00 0 ,
    PDYN 0.00 0 ,
    PEPD 0.00 0 ,
    PET100 0.00 0 ,
    PEX1 0.00 0 ,
    PEX10 0.00 0 ,
    PEX11B 0.00 0 ,
    PEX12 0.00 0 ,
    PEX13 0.00 0 ,
    PEX14 0.00 0 ,
    PEX16 0.00 0 ,
    PEX19 0.00 0 ,
    PEX2 0.00 0 ,
    PEX26 0.00 0 ,
    PEX3 0.00 0 ,
    PEX5 0.00 0 ,
    PEX6 0.00 0 ,
    PEX7 0.00 0 ,
    PFKM 0.00 0 ,
    PGAP1 0.00 0 ,
    PGAP2 0.00 0 ,
    PGAP3 0.00 0 ,
    PGM1 0.00 0 ,
    PGM3 0.00 0 ,
    PHF21A 0.00 0 ,
    PHF6 0.00 0 ,
    PHF8 0.00 0 ,
    PHGDH 0.00 0 ,
    PHIP 0.00 0 ,
    PHOX2B 0.00 0 ,
    PIBF1 0.00 0 ,
    PIEZO1 0.00 0 ,
    PIEZO2 0.00 0 ,
    PIGA 0.00 0 ,
    PIGG 0.00 0 ,
    PIGL 0.00 0 ,
    PIGN 0.00 0 ,
    PIGO 0.00 0 ,
    PIGS 0.00 0 ,
    PIGT 0.00 0 ,
    PIGV 0.00 0 ,
    PIGY 0.00 0 ,
    DNAAF6 0.00 0 ,
    PIK3C2A 0.00 0 ,
    PIK3CA 0.00 0 ,
    PIK3R1 0.00 0 ,
    PIK3R2 0.00 0 ,
    PIP5K1C 0.00 0 ,
    PITX1 0.00 0 ,
    PITX2 0.00 0 ,
    PITX3 0.00 0 ,
    PKD1 0.00 0 ,
    PKD1L1 0.00 0 ,
    PKD2 0.00 0 ,
    PKHD1 0.00 0 ,
    PKLR 0.00 0 ,
    PLAA 0.00 0 ,
    PLAG1 0.00 0 ,
    PLCB1 0.00 0 ,
    PLCB4 0.00 0 ,
    PRKCSH 0.00 0 ,
    PLEC 0.00 0 ,
    PLG 0.00 0 ,
    PLK4 0.00 0 ,
    PLOD1 0.00 0 ,
    PLOD2 0.00 0 ,
    PLOD3 0.00 0 ,
    PLP1 0.00 0 ,
    PLPBP 0.00 0 ,
    PMM2 0.00 0 ,
    PMP22 0.00 0 ,
    PMS2 0.00 0 ,
    PNKP 0.00 0 ,
    PNPLA1 0.00 0 ,
    POC1A 0.00 0 ,
    POGZ 0.00 0 ,
    POLE 0.00 0 ,
    POLG2 0.00 0 ,
    POLR1A 0.00 0 ,
    POLR1B 0.00 0 ,
    POLR1C 0.00 0 ,
    POLR1D 0.00 0 ,
    POLR3A 0.00 0 ,
    POLR3B 0.00 0 ,
    POMGNT1 0.00 0 ,
    POMGNT2 0.00 0 ,
    POMK 0.00 0 ,
    POMT1 0.00 0 ,
    POMT2 0.00 0 ,
    BVES 0.00 0 ,
    PORCN 0.00 0 ,
    POU1F1 0.00 0 ,
    PPIB 0.00 0 ,
    PPP1CB 0.00 0 ,
    PPP2R1A 0.00 0 ,
    PPP2R5D 0.00 0 ,
    PPP3CA 0.00 0 ,
    PQBP1 0.00 0 ,
    PRDM5 0.00 0 ,
    PREPL 0.00 0 ,
    PRG4 0.00 0 ,
    PRIM1 0.00 0 ,
    PRKAG2 0.00 0 ,
    PRKAR1A 0.00 0 ,
    PRKD1 0.00 0 ,
    PRMT7 0.00 0 ,
    PROK2 0.00 0 ,
    PROKR2 0.00 0 ,
    PROP1 0.00 0 ,
    PRR12 0.00 0 ,
    PRRX1 0.00 0 ,
    PRSS56 0.00 0 ,
    PRUNE1 0.00 0 ,
    PRX 0.00 0 ,
    PSAP 0.00 0 ,
    PSAT1 0.00 0 ,
    PSPH 0.00 0 ,
    PTCH1 0.00 0 ,
    PTCH2 0.00 0 ,
    PTDSS1 0.00 0 ,
    PTEN 0.00 0 ,
    PTF1A 0.00 0 ,
    PTH 0.00 0 ,
    PTH1R 0.00 0 ,
    PTHLH 0.00 0 ,
    PTPN11 0.00 0 ,
    PTPN14 0.00 0 ,
    PTS 0.00 0 ,
    PUF60 0.00 0 ,
    PXDN 0.00 0 ,
    PYCR1 0.00 0 ,
    PYCR2 0.00 0 ,
    PYGM 0.00 0 ,
    PYROXD1 0.00 0 ,
    QARS1 0.00 0 ,
    QRICH1 0.00 0 ,
    RAB11A 0.00 0 ,
    RAB11B 0.00 0 ,
    RAB18 0.00 0 ,
    RAB23 0.00 0 ,
    RAB33B 0.00 0 ,
    RAB3GAP1 0.00 0 ,
    RAB3GAP2 0.00 0 ,
    RAB40AL 0.00 0 ,
    RAC1 0.00 0 ,
    NCOA3 0.00 0 ,
    RAD21 0.00 0 ,
    RAD51 0.00 0 ,
    RAD51C 0.00 0 ,
    RAF1 0.00 0 ,
    RAI1 0.00 0 ,
    RAPSN 0.00 0 ,
    RARB 0.00 0 ,
    RARS2 0.00 0 ,
    RASA1 0.00 0 ,
    PRKRA 0.00 0 ,
    RB1 0.00 0 ,
    RBBP8 0.00 0 ,
    RBM10 0.00 0 ,
    RBM8A 0.00 0 ,
    RBPJ 0.00 0 ,
    RCOR1 0.00 0 ,
    RD3 0.00 0 ,
    RDH12 0.00 0 ,
    RECQL4 0.00 0 ,
    RELN 0.00 0 ,
    REN 0.00 0 ,
    RERE 0.00 0 ,
    RET 0.00 0 ,
    RFT1 0.00 0 ,
    RFX6 0.00 0 ,
    RIN2 0.00 0 ,
    RIPK4 0.00 0 ,
    RIT1 0.00 0 ,
    RLIM 0.00 0 ,
    RMND1 0.00 0 ,
    RNASEH2A 0.00 0 ,
    RNASEH2B 0.00 0 ,
    RNASEH2C 0.00 0 ,
    RNASET2 0.00 0 ,
    ROBO1 0.00 0 ,
    ROBO3 0.00 0 ,
    ROGDI 0.00 0 ,
    ROR2 0.00 0 ,
    RORA 0.00 0 ,
    RPE65 0.00 0 ,
    RPGRIP1 0.00 0 ,
    RPGRIP1L 0.00 0 ,
    RPL15 0.00 0 ,
    RPL11 0.00 0 ,
    RPL26 0.00 0 ,
    RPL35A 0.00 0 ,
    RPL5 0.00 0 ,
    RPS10 0.00 0 ,
    RPS17 0.00 0 ,
    RPS19 0.00 0 ,
    RPS23 0.00 0 ,
    RPS24 0.00 0 ,
    RPS26 0.00 0 ,
    RPS6KA3 0.00 0 ,
    RPS7 0.00 0 ,
    RRAS 0.00 0 ,
    RRAS2 0.00 0 ,
    RRM2B 0.00 0 ,
    RSPH4A 0.00 0 ,
    RSPH9 0.00 0 ,
    RSPRY1 0.00 0 ,
    RTEL1 0.00 0 ,
    RTTN 0.00 0 ,
    RUNX2 0.00 0 ,
    RXYLT1 0.00 0 ,
    RYR1 0.00 0 ,
    SACS 0.00 0 ,
    SALL1 0.00 0 ,
    SALL4 0.00 0 ,
    SAMD9 0.00 0 ,
    SAMHD1 0.00 0 ,
    SASS6 0.00 0 ,
    SATB2 0.00 0 ,
    SBDS 0.00 0 ,
    SC5D 0.00 0 ,
    SCARF2 0.00 0 ,
    SCLT1 0.00 0 ,
    SCN1A 0.00 0 ,
    SCN2A 0.00 0 ,
    SCN3A 0.00 0 ,
    SCN4A 0.00 0 ,
    SCO2 0.00 0 ,
    SCUBE3 0.00 0 ,
    SCYL1 0.00 0 ,
    SDCCAG8 0.00 0 ,
    SDR9C7 0.00 0 ,
    SEC23A 0.00 0 ,
    SEC23B 0.00 0 ,
    SEC24D 0.00 0 ,
    SEC61B 0.00 0 ,
    SECISBP2 0.00 0 ,
    SELENON 0.00 0 ,
    SEMA3A 0.00 0 ,
    SEMA3E 0.00 0 ,
    SEPSECS 0.00 0 ,
    SEPTIN9 0.00 0 ,
    SERPINF1 0.00 0 ,
    SERPINH1 0.00 0 ,
    SET 0.00 0 ,
    SETBP1 0.00 0 ,
    SETD1A 0.00 0 ,
    SETD1B 0.00 0 ,
    SETD2 0.00 0 ,
    SETD5 0.00 0 ,
    SF3B4 0.00 0 ,
    SGCG 0.00 0 ,
    SGPL1 0.00 0 ,
    SGSH 0.00 0 ,
    SH3PXD2B 0.00 0 ,
    SHANK1 0.00 0 ,
    SHANK2 0.00 0 ,
    SHANK3 0.00 0 ,
    SHH 0.00 0 ,
    SHOC2 0.00 0 ,
    SHOX 0.00 0 ,
    SHROOM3 0.00 0 ,
    SIK3 0.00 0 ,
    SIL1 0.00 0 ,
    SIN3A 0.00 0 ,
    SIX1 0.00 0 ,
    SIX3 0.00 0 ,
    SIX5 0.00 0 ,
    SIX6 0.00 0 ,
    HHAT 0.00 0 ,
    SLC10A7 0.00 0 ,
    SLC12A1 0.00 0 ,
    SLC12A6 0.00 0 ,
    SLC13A5 0.00 0 ,
    SLC16A2 0.00 0 ,
    SLC17A5 0.00 0 ,
    SLC18A3 0.00 0 ,
    SLC1A2 0.00 0 ,
    SLC20A1 0.00 0 ,
    SLC20A2 0.00 0 ,
    SLC24A4 0.00 0 ,
    SLC25A19 0.00 0 ,
    SLC25A20 0.00 0 ,
    SLC25A22 0.00 0 ,
    SLC25A24 0.00 0 ,
    SLC25A38 0.00 0 ,
    SLC25A4 0.00 0 ,
    SLC26A2 0.00 0 ,
    SLC26A3 0.00 0 ,
    SLC27A4 0.00 0 ,
    SLC29A3 0.00 0 ,
    SLC2A10 0.00 0 ,
    SLC33A1 0.00 0 ,
    SLC35A1 0.00 0 ,
    SLC35A2 0.00 0 ,
    SLC35A3 0.00 0 ,
    SLC35C1 0.00 0 ,
    SLC35D1 0.00 0 ,
    SLC39A8 0.00 0 ,
    SLC45A1 0.00 0 ,
    SLC5A7 0.00 0 ,
    SLC6A17 0.00 0 ,
    SLC6A8 0.00 0 ,
    SLC6A9 0.00 0 ,
    SLC7A9 0.00 0 ,
    SLC9A6 0.00 0 ,
    SLIT2 0.00 0 ,
    SLX4 0.00 0 ,
    SMAD3 0.00 0 ,
    SMAD4 0.00 0 ,
    SMARCA2 0.00 0 ,
    SMARCA4 0.00 0 ,
    SMARCB1 0.00 0 ,
    SMARCC1 0.00 0 ,
    SMARCE1 0.00 0 ,
    SMC1A 0.00 0 ,
    SMC3 0.00 0 ,
    SMCHD1 0.00 0 ,
    SMG9 0.00 0 ,
    SMN1 0.00 0 ,
    SMO 0.00 0 ,
    SMOC1 0.00 0 ,
    SMOC2 0.00 0 ,
    SMPD1 0.00 0 ,
    SMPD4 0.00 0 ,
    SNAP25 0.00 0 ,
    SNAP29 0.00 0 ,
    SNIP1 0.00 0 ,
    SNRPB 0.00 0 ,
    SNRPE 0.00 0 ,
    SNX10 0.00 0 ,
    SNX14 0.00 0 ,
    SON 0.00 0 ,
    SOS1 0.00 0 ,
    SOS2 0.00 0 ,
    SOST 0.00 0 ,
    SOX10 0.00 0 ,
    SOX11 0.00 0 ,
    SOX17 0.00 0 ,
    SOX18 0.00 0 ,
    SOX2 0.00 0 ,
    SOX3 0.00 0 ,
    SOX5 0.00 0 ,
    SOX6 0.00 0 ,
    SOX9 0.00 0 ,
    SP7 0.00 0 ,
    SPAG1 0.00 0 ,
    SPARC 0.00 0 ,
    AFG2A 0.00 0 ,
    SPATA7 0.00 0 ,
    SPECC1L 0.00 0 ,
    SPEG 0.00 0 ,
    SPG11 0.00 0 ,
    SPRED1 0.00 0 ,
    SPRY4 0.00 0 ,
    SPTAN1 0.00 0 ,
    SRCAP 0.00 0 ,
    SRD5A2 0.00 0 ,
    SRD5A3 0.00 0 ,
    SRGAP1 0.00 0 ,
    SRP54 0.00 0 ,
    SRY 0.00 0 ,
    ST14 0.00 0 ,
    ST3GAL3 0.00 0 ,
    ST3GAL5 0.00 0 ,
    STAC3 0.00 0 ,
    STAG2 0.00 0 ,
    STAMBP 0.00 0 ,
    STAT3 0.00 0 ,
    STAT5B 0.00 0 ,
    STIL 0.00 0 ,
    STRA6 0.00 0 ,
    STRADA 0.00 0 ,
    STS 0.00 0 ,
    STX1B 0.00 0 ,
    STXBP1 0.00 0 ,
    SUCLG1 0.00 0 ,
    SUFU 0.00 0 ,
    SULT2B1 0.00 0 ,
    SUMF1 0.00 0 ,
    SUMO1 0.00 0 ,
    SUZ12 0.00 0 ,
    SYN1 0.00 0 ,
    SYNE1 0.00 0 ,
    SYNM 0.00 0 ,
    SZT2 0.00 0 ,
    TAB2 0.00 0 ,
    TAC3 0.00 0 ,
    TACO1 0.00 0 ,
    TACR3 0.00 0 ,
    TAF1 0.00 0 ,
    TAF13 0.00 0 ,
    TAF2 0.00 0 ,
    TALDO1 0.00 0 ,
    TAPT1 0.00 0 ,
    WWTR1 0.00 0 ,
    TBC1D1 0.00 0 ,
    TBC1D20 0.00 0 ,
    TBC1D23 0.00 0 ,
    TBC1D24 0.00 0 ,
    TBC1D32 0.00 0 ,
    TBCD 0.00 0 ,
    TBCE 0.00 0 ,
    TBCK 0.00 0 ,
    TBL1XR1 0.00 0 ,
    TBR1 0.00 0 ,
    TBX1 0.00 0 ,
    TBX15 0.00 0 ,
    TBX18 0.00 0 ,
    TBX20 0.00 0 ,
    TBX22 0.00 0 ,
    TBX3 0.00 0 ,
    TBX4 0.00 0 ,
    TBX5 0.00 0 ,
    TBX6 0.00 0 ,
    TBXT 0.00 0 ,
    TCF12 0.00 0 ,
    TCF20 0.00 0 ,
    TCF4 0.00 0 ,
    TCIRG1 0.00 0 ,
    TCOF1 0.00 0 ,
    DYNLT2B 0.00 0 ,
    TCTN1 0.00 0 ,
    TCTN2 0.00 0 ,
    TCTN3 0.00 0 ,
    TECPR2 0.00 0 ,
    TELO2 0.00 0 ,
    TENM3 0.00 0 ,
    TENT5A 0.00 0 ,
    TFAP2A 0.00 0 ,
    TFAP2B 0.00 0 ,
    TGDS 0.00 0 ,
    TGFB2 0.00 0 ,
    TGFB3 0.00 0 ,
    TGFBR1 0.00 0 ,
    TGFBR2 0.00 0 ,
    TGIF1 0.00 0 ,
    TGM1 0.00 0 ,
    THOC2 0.00 0 ,
    THOC6 0.00 0 ,
    THRA 0.00 0 ,
    THSD1 0.00 0 ,
    TINF2 0.00 0 ,
    TLL1 0.00 0 ,
    TMCO1 0.00 0 ,
    TMEM107 0.00 0 ,
    TMEM138 0.00 0 ,
    TMEM165 0.00 0 ,
    TMEM216 0.00 0 ,
    TMEM231 0.00 0 ,
    TMEM237 0.00 0 ,
    TMEM260 0.00 0 ,
    TMEM38B 0.00 0 ,
    TMEM67 0.00 0 ,
    TMEM70 0.00 0 ,
    TMEM94 0.00 0 ,
    TMEM98 0.00 0 ,
    TMTC3 0.00 0 ,
    TMX2 0.00 0 ,
    TNC 0.00 0 ,
    TNFRSF13B 0.00 0 ,
    TNNI2 0.00 0 ,
    TNNT1 0.00 0 ,
    TNNT3 0.00 0 ,
    TNXB 0.00 0 ,
    TOE1 0.00 0 ,
    TOP3A 0.00 0 ,
    TOR1A 0.00 0 ,
    TP53RK 0.00 0 ,
    TP63 0.00 0 ,
    TPM2 0.00 0 ,
    TPM3 0.00 0 ,
    TRAF3IP1 0.00 0 ,
    TRAF7 0.00 0 ,
    TRAIP 0.00 0 ,
    TRAP1 0.00 0 ,
    TRAPPC11 0.00 0 ,
    TRAPPC12 0.00 0 ,
    TRAPPC9 0.00 0 ,
    TREM2 0.00 0 ,
    TREX1 0.00 0 ,
    TRIM32 0.00 0 ,
    TRIM37 0.00 0 ,
    TRIO 0.00 0 ,
    TRIP11 0.00 0 ,
    TRIP12 0.00 0 ,
    TRIP13 0.00 0 ,
    TRIP4 0.00 0 ,
    TRMT10A 0.00 0 ,
    TRMT10C 0.00 0 ,
    TRPM7 0.00 0 ,
    TRPS1 0.00 0 ,
    TRPV3 0.00 0 ,
    TRPV4 0.00 0 ,
    TRPV6 0.00 0 ,
    TSC1 0.00 0 ,
    TSC2 0.00 0 ,
    TSEN15 0.00 0 ,
    TSEN2 0.00 0 ,
    TSEN34 0.00 0 ,
    TSEN54 0.00 0 ,
    TSFM 0.00 0 ,
    TSPYL1 0.00 0 ,
    TTC21B 0.00 0 ,
    ODAD4 0.00 0 ,
    SKIC3 0.00 0 ,
    TTC7A 0.00 0 ,
    TTC8 0.00 0 ,
    TTC9 0.00 0 ,
    TTI2 0.00 0 ,
    TTN 0.00 0 ,
    TUBA1A 0.00 0 ,
    TUBA8 0.00 0 ,
    TUBB 0.00 0 ,
    TUBB2A 0.00 0 ,
    TUBB2B 0.00 0 ,
    TUBB3 0.00 0 ,
    TUBB4A 0.00 0 ,
    TUBG1 0.00 0 ,
    TUBGCP4 0.00 0 ,
    TUBGCP6 0.00 0 ,
    TUFM 0.00 0 ,
    TULP1 0.00 0 ,
    TWIST1 0.00 0 ,
    TWIST2 0.00 0 ,
    TXNDC15 0.00 0 ,
    TXNL4A 0.00 0 ,
    TYR 0.00 0 ,
    TYROBP 0.00 0 ,
    UBA1 0.00 0 ,
    UBB 0.00 0 ,
    UBE2T 0.00 0 ,
    UBE3A 0.00 0 ,
    UBE3B 0.00 0 ,
    UBR1 0.00 0 ,
    UBTF 0.00 0 ,
    UFD1 0.00 0 ,
    UMOD 0.00 0 ,
    UMPS 0.00 0 ,
    UNC50 0.00 0 ,
    UPF3B 0.00 0 ,
    UPK3A 0.00 0 ,
    UQCRB 0.00 0 ,
    UQCRQ 0.00 0 ,
    UROS 0.00 0 ,
    USP18 0.00 0 ,
    USP27X 0.00 0 ,
    USP9X 0.00 0 ,
    UTRN 0.00 0 ,
    VAMP1 0.00 0 ,
    VANGL1 0.00 0 ,
    VANGL2 0.00 0 ,
    VAX1 0.00 0 ,
    VDR 0.00 0 ,
    VEGFC 0.00 0 ,
    VIPAS39 0.00 0 ,
    VLDLR 0.00 0 ,
    VMA21 0.00 0 ,
    VPS13B 0.00 0 ,
    VPS33B 0.00 0 ,
    VPS53 0.00 0 ,
    VRK1 0.00 0 ,
    VSX2 0.00 0 ,
    VTI1A 0.00 0 ,
    VWA2 0.00 0 ,
    WASHC5 0.00 0 ,
    WBP11 0.00 0 ,
    WDPCP 0.00 0 ,
    WDR11 0.00 0 ,
    WDR19 0.00 0 ,
    WDR26 0.00 0 ,
    DYNC2I2 0.00 0 ,
    WDR35 0.00 0 ,
    WDR4 0.00 0 ,
    DYNC2I1 0.00 0 ,
    WDR62 0.00 0 ,
    WDR73 0.00 0 ,
    WDR81 0.00 0 ,
    WNT1 0.00 0 ,
    WNT10B 0.00 0 ,
    WNT3 0.00 0 ,
    WNT4 0.00 0 ,
    WNT5A 0.00 0 ,
    WNT7A 0.00 0 ,
    WRAP53 0.00 0 ,
    WT1 0.00 0 ,
    WWOX 0.00 0 ,
    XRCC4 0.00 0 ,
    XYLT1 0.00 0 ,
    XYLT2 0.00 0 ,
    YAP1 0.00 0 ,
    YWHAG 0.00 0 ,
    YY1 0.00 0 ,
    ZBTB18 0.00 0 ,
    ZBTB20 0.00 0 ,
    ZC4H2 0.00 0 ,
    ZDHHC9 0.00 0 ,
    ZEB2 0.00 0 ,
    ZFP57 0.00 0 ,
    ZFPM2 0.00 0 ,
    ZFYVE26 0.00 0 ,
    ZIC1 0.00 0 ,
    ZIC2 0.00 0 ,
    ZIC3 0.00 0 ,
    ZMPSTE24 0.00 0 ,
    ZMYND10 0.00 0 ,
    ZMYND11 0.00 0 ,
    ZNF423 0.00 0 ,
    ZNF462 0.00 0 ,
    ZNF469 0.00 0 ,
    ZNF750 0.00 0 ,
    ZNRF3 0.00 0 ,
    ZPR1 0.00 0 ,
    ZSWIM6 0.00 0 ,
  • Congenital malformation gene panel - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 100.00 0 No comment
    ABAT 100.00 0 No comment
    ABCC6 100.00 0 No comment
    ABCD1 99.93 0 No comment
    ABCD3 99.97 0 No comment
    ABL1 100.00 0 No comment
    ACAN 98.89 0 No comment
    ACO2 100.00 0 No comment
    ACTA1 100.00 0 No comment
    ACTB 100.00 0 No comment
    ACTG1 100.00 0 No comment
    ADAMTS10 99.88 0 No comment
    ADAMTS17 89.95 0 No comment
    ADAMTSL2 100.00 0 No comment
    ADAR 100.00 0 No comment
    ADGRG1 100.00 0 No comment
    ADGRG6 100.00 0 No comment
    ADSL 100.00 0 No comment
    AHI1 100.00 0 No comment
    AIMP1 100.00 0 No comment
    AIPL1 100.00 0 No comment
    AIRE 99.88 0 No comment
    AKR1C2 99.98 0 No comment
    AKT1 100.00 0 No comment
    AKT3 100.00 0 No comment
    ALDH1A3 99.83 0 No comment
    ALMS1 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
    AMT 99.94 0 No comment
    ANKRD11 100.00 0 No comment
    ANOS1 95.04 0 No comment
    ANTXR2 100.00 0 No comment
    AP4B1 100.00 0 No comment
    AR 99.29 0 No comment
    ARFGEF2 100.00 0 No comment
    ARHGAP31 100.00 0 No comment
    ARID1A 94.64 0 No comment
    ARID1B 92.99 0 No comment
    ARL13B 100.00 0 No comment
    ARL6 100.00 0 No comment
    ARVCF 100.00 0 No comment
    ARX 78.98 0 No comment
    ASNS 100.00 0 No comment
    ASPA 100.00 0 No comment
    ASPM 100.00 0 No comment
    ASS1 99.87 0 No comment
    ASXL1 99.91 0 No comment
    ATL1 100.00 0 No comment
    ATM 100.00 0 No comment
    ATP6V0A2 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATP8A2 99.93 0 No comment
    ANTXR1 100.00 0 No comment
    ATRX 100.00 0 No comment
    ATXN10 99.48 0 No comment
    B3GALNT2 85.88 0 No comment
    B3GALT6 56.12 0 No comment
    B3GAT3 95.56 0 No comment
    B3GLCT 94.89 0 No comment
    B4GALT1 100.00 0 No comment
    B4GAT1 100.00 0 No comment
    B9D1 100.00 0 No comment
    B9D2 100.00 0 No comment
    BBIP1 100.00 0 No comment
    BBS1 100.00 0 No comment
    BBS10 100.00 0 No comment
    BBS12 100.00 0 No comment
    BBS2 100.00 0 No comment
    BBS4 100.00 0 No comment
    BBS5 100.00 0 No comment
    BBS7 100.00 0 No comment
    BBS9 100.00 0 No comment
    BCOR 100.00 0 No comment
    BDNF 100.00 0 No comment
    BIN1 100.00 0 No comment
    BMP2 100.00 0 No comment
    BMP4 100.00 0 No comment
    BMPER 100.00 0 No comment
    BMPR1B 100.00 0 No comment
    BRAF 96.97 0 No comment
    BRIP1 100.00 0 No comment
    BSND 100.00 0 No comment
    BUB1 100.00 0 No comment
    BUB1B 100.00 0 No comment
    BUB3 100.00 0 No comment
    C12ORF57 100.00 0 No comment
    CACNA1A 98.78 0 No comment
    CASK 100.00 0 No comment
    CBL 100.00 0 No comment
    CC2D2A 98.16 0 No comment
    CCBE1 99.97 0 No comment
    CCDC28B 100.00 0 No comment
    CCM2 99.98 0 No comment
    CCNQ 84.41 0 No comment
    CD96 100.00 0 No comment
    CDC6 100.00 0 No comment
    CDH1 98.08 0 No comment
    CDKL5 100.00 0 No comment
    CDKN1C 62.25 0 No comment
    CDON 100.00 0 No comment
    CDT1 87.95 0 No comment
    CENPF 100.00 0 No comment
    CEP164 100.00 0 No comment
    CEP290 99.99 0 No comment
    CEP41 100.00 0 No comment
    CEP57 100.00 0 No comment
    CFTR 99.91 0 No comment
    CHAT 100.00 0 No comment
    CHD7 100.00 0 No comment
    CHMP1A 100.00 0 No comment
    CHN1 99.56 0 No comment
    CHRNA1 100.00 0 No comment
    CHRNB1 100.00 0 No comment
    CHRND 100.00 0 No comment
    CHRNE 100.00 0 No comment
    CHRNG 100.00 0 No comment
    CHST14 98.57 0 No comment
    CHST3 100.00 0 No comment
    CHSY1 91.67 0 No comment
    CHUK 99.76 0 No comment
    CKAP2L 100.00 0 No comment
    CNTN1 100.00 0 No comment
    COG4 100.00 0 No comment
    COL11A1 100.00 0 No comment
    COL11A2 99.14 0 No comment
    COL18A1 97.80 0 No comment
    COL1A1 100.00 0 No comment
    COL1A2 99.93 0 No comment
    COL2A1 100.00 0 No comment
    COL3A1 100.00 0 No comment
    COL4A1 98.71 0 No comment
    COL5A1 98.16 0 No comment
    COL5A2 100.00 0 No comment
    COL6A1 100.00 0 No comment
    COL6A2 100.00 0 No comment
    COL6A3 100.00 0 No comment
    COL7A1 100.00 0 No comment
    COL9A1 100.00 0 No comment
    COL9A2 100.00 0 No comment
    COLEC11 100.00 0 No comment
    COMT 100.00 0 No comment
    COX7B 99.88 0 No comment
    CPLANE1 100.00 0 No comment
    CPT2 98.71 0 No comment
    CRB1 100.00 0 No comment
    CREBBP 100.00 0 No comment
    CRH 100.00 0 No comment
    CRLF1 89.81 0 No comment
    CRPPA 95.75 0 No comment
    CRX 100.00 0 No comment
    CSPP1 100.00 0 No comment
    CTCF 100.00 0 No comment
    CTNS 100.00 0 No comment
    CTSA 100.00 0 No comment
    CUL7 99.99 0 No comment
    CXCR4 100.00 0 No comment
    CYP11B1 100.00 0 No comment
    CYP17A1 100.00 0 No comment
    CYP19A1 100.00 0 No comment
    CYP21A2 100.00 0 No comment
    CYP2U1 93.04 0 No comment
    DARS1 100.00 0 No comment
    DCHS1 99.64 0 No comment
    DCX 100.00 0 No comment
    DDHD2 100.00 0 No comment
    DDX59 100.00 0 No comment
    DHCR24 99.96 0 No comment
    DHCR7 100.00 0 No comment
    DHH 99.75 0 No comment
    DHODH 100.00 0 No comment
    DIS3L2 100.00 0 No comment
    DKC1 100.00 0 No comment
    DLL3 78.42 0 No comment
    DLX5 100.00 0 No comment
    DMD 100.00 0 No comment
    DMPK 99.97 0 No comment
    DNM2 99.95 0 No comment
    DOCK6 99.12 0 No comment
    DOK7 98.77 0 No comment
    DPYD 100.00 0 No comment
    DSP 100.00 0 No comment
    DUSP6 100.00 0 No comment
    DYM 100.00 0 No comment
    DYNC1H1 100.00 0 No comment
    DYNC2H1 100.00 0 No comment
    EARS2 100.00 0 No comment
    GLB1 100.00 0 No comment
    ECEL1 95.92 0 No comment
    EFNB1 100.00 0 No comment
    EFTUD2 100.00 0 No comment
    EGR2 100.00 0 No comment
    EHMT1 98.85 0 No comment
    EIF2AK3 95.52 0 No comment
    EIF4A3 100.00 0 No comment
    EMD 99.84 0 No comment
    EMG1 100.00 0 No comment
    EMX2 100.00 0 No comment
    EOGT 100.00 0 No comment
    EP300 100.00 0 No comment
    EPG5 100.00 0 No comment
    EPHX1 100.00 0 No comment
    ERBB3 100.00 0 No comment
    ERCC1 100.00 0 No comment
    ERCC2 100.00 0 No comment
    ERCC4 100.00 0 No comment
    ERCC5 100.00 0 No comment
    ERCC6 100.00 0 No comment
    ERLIN2 100.00 0 No comment
    ESCO2 100.00 0 No comment
    EVC 94.45 0 No comment
    EVC2 99.55 0 No comment
    EYA1 100.00 0 No comment
    EZH2 100.00 0 No comment
    FA2H 92.06 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
    FANCM 100.00 0 No comment
    FAT4 100.00 0 No comment
    FBN1 100.00 0 No comment
    FBN2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FGD1 99.39 0 No comment
    FGF10 100.00 0 No comment
    FGF17 100.00 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
    FH 100.00 0 No comment
    FIG4 100.00 0 No comment
    FKBP14 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNA 100.00 0 No comment
    FLNB 100.00 0 No comment
    FLRT3 100.00 0 No comment
    FLT4 98.20 0 No comment
    FLVCR2 100.00 0 No comment
    FOXC1 62.57 0 No comment
    FOXC2 72.63 0 No comment
    FOXE1 60.48 0 No comment
    FOXG1 85.88 0 No comment
    FRAS1 100.00 0 No comment
    FREM1 100.00 0 No comment
    FREM2 100.00 0 No comment
    FTO 100.00 0 No comment
    FUZ 100.00 0 No comment
    G6PC3 100.00 0 No comment
    GAA 100.00 0 No comment
    GATA1 100.00 0 No comment
    GATA4 80.69 0 No comment
    GATA6 81.11 0 No comment
    GBA1 100.00 0 No comment
    GBA2 100.00 0 No comment
    GBE1 100.00 0 No comment
    GCSH 76.04 0 No comment
    GDF1 58.25 0 No comment
    GDF3 100.00 0 No comment
    GDF5 100.00 0 No comment
    GDF6 93.56 0 No comment
    GFAP 100.00 0 No comment
    GFM1 100.00 0 No comment
    GJA1 100.00 0 No comment
    GJB2 98.23 0 No comment
    GJC2 81.91 0 No comment
    GLDC 96.53 0 No comment
    GLE1 100.00 0 No comment
    GLI2 95.11 0 No comment
    GLI3 100.00 0 No comment
    GLUL 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNAI3 100.00 0 No comment
    GNAO1 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GP1BB 25.16 0 No comment
    GPC3 100.00 0 No comment
    GPC6 100.00 0 No comment
    GPI 100.00 0 No comment
    GPSM2 100.00 0 No comment
    GRHL3 100.00 0 No comment
    GRIP1 100.00 0 No comment
    GRM1 100.00 0 No comment
    GUCY2D 99.13 0 No comment
    GUSB 100.00 0 No comment
    H19 100.00 0 No comment
    HADHA 100.00 0 No comment
    HADHB 100.00 0 No comment
    HCCS 100.00 0 No comment
    HDAC8 100.00 0 No comment
    HES7 99.67 0 No comment
    HESX1 100.00 0 No comment
    HIBCH 100.00 0 No comment
    HIRA 99.90 0 No comment
    HOXA11 99.40 0 No comment
    HOXA13 73.35 0 No comment
    HOXA2 99.99 0 No comment
    HOXD13 80.52 0 No comment
    HPGD 99.99 0 No comment
    HRAS 100.00 0 No comment
    HS6ST1 98.52 0 No comment
    HSD17B3 100.00 0 No comment
    HSD17B4 100.00 0 No comment
    HSPG2 99.43 0 No comment
    HYAL1 100.00 0 No comment
    HYLS1 100.00 0 No comment
    IBA57 87.89 0 No comment
    CILK1 100.00 0 No comment
    IDS 100.00 0 No comment
    IDUA 88.67 0 No comment
    IER3IP1 99.93 0 No comment
    IFIH1 100.00 0 No comment
    IFT172 100.00 0 No comment
    IFT27 100.00 0 No comment
    IFT80 100.00 0 No comment
    IFT88 99.71 0 No comment
    IGBP1 100.00 0 No comment
    IGHMBP2 100.00 0 No comment
    IHH 99.88 0 No comment
    IKBKG 99.74 0 No comment
    IL10 100.00 0 No comment
    IL17RD 98.31 0 No comment
    IMPDH1 97.72 0 No comment
    INPP5E 99.54 0 No comment
    INSR 97.31 0 No comment
    IQCB1 100.00 0 No comment
    IRF6 100.00 0 No comment
    ITGA6 100.00 0 No comment
    ITGA8 99.96 0 No comment
    ITGB4 98.41 0 No comment
    ITPR1 100.00 0 No comment
    JAG1 99.66 0 No comment
    JAM3 100.00 0 No comment
    JUP 100.00 0 No comment
    KANSL1 100.00 0 No comment
    KAT6B 100.00 0 No comment
    KCNA1 100.00 0 No comment
    KCNJ13 100.00 0 No comment
    KCNJ2 100.00 0 No comment
    KCNK9 100.00 0 No comment
    KCNQ1OT1 0.55 0 No comment
    KCNQ2 99.98 0 No comment
    KCNT1 99.74 0 No comment
    KCTD1 92.53 0 No comment
    KCTD7 97.35 0 No comment
    KDM6A 100.00 0 No comment
    KIF14 100.00 0 No comment
    KIF1A 99.90 0 No comment
    KIFBP 100.00 0 No comment
    KIF2A 98.88 0 No comment
    KIF5C 100.00 0 No comment
    KIF7 96.94 0 No comment
    KISS1R 94.58 0 No comment
    KMT2D 100.00 0 No comment
    KRAS 100.00 0 No comment
    L1CAM 100.00 0 No comment
    L2HGDH 99.96 0 No comment
    LAMA2 100.00 0 No comment
    LAMB1 100.00 0 No comment
    LAMC3 97.51 0 No comment
    LARGE1 100.00 0 No comment
    LBR 100.00 0 No comment
    LCA5 100.00 0 No comment
    LEMD3 100.00 0 No comment
    LFNG 82.55 0 No comment
    LHB 97.18 0 No comment
    LHX3 94.36 0 No comment
    LHX4 100.00 0 No comment
    LIFR 100.00 0 No comment
    LMBR1 100.00 0 No comment
    LMNA 99.93 0 No comment
    LMNB1 97.46 0 No comment
    LMX1B 99.99 0 No comment
    LRAT 100.00 0 No comment
    LRP2 99.96 0 No comment
    CORIN 98.90 0 No comment
    LZTFL1 100.00 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MAP3K1 92.79 0 No comment
    MASP1 100.00 0 No comment
    MBTPS2 100.00 0 No comment
    MCOLN1 97.27 0 No comment
    MCPH1 100.00 0 No comment
    MED12 99.96 0 No comment
    MEF2C 100.00 0 No comment
    MEGF10 100.00 0 No comment
    MEOX1 100.00 0 No comment
    MESP2 100.00 0 No comment
    MFRP 100.00 0 No comment
    MGP 100.00 0 No comment
    MID1 100.00 0 No comment
    MIPOL1 100.00 0 No comment
    MKKS 100.00 0 No comment
    MKS1 100.00 0 No comment
    MLH1 100.00 0 No comment
    MOCS1 99.95 0 No comment
    MOCS2 100.00 0 No comment
    MPL 100.00 0 No comment
    MPZ 100.00 0 No comment
    MRPS16 100.00 0 No comment
    MRPS22 100.00 0 No comment
    MSH2 100.00 0 No comment
    MSH6 100.00 0 No comment
    MSX1 97.41 0 No comment
    MSX2 100.00 0 No comment
    MTM1 100.00 0 No comment
    MUSK 100.00 0 No comment
    MVK 100.00 0 No comment
    MYBPC1 100.00 0 No comment
    MYH2 100.00 0 No comment
    MYH3 100.00 0 No comment
    MYH8 100.00 0 No comment
    MYOD1 98.47 0 No comment
    NAA10 96.03 0 No comment
    NBN 100.00 0 No comment
    NDE1 100.00 0 No comment
    NEB 99.99 0 No comment
    NECTIN1 100.00 0 No comment
    NEK1 100.00 0 No comment
    NEXMIF 100.00 0 No comment
    NF1 99.95 0 No comment
    NFIX 97.15 0 No comment
    NIN 100.00 0 No comment
    NIPBL 99.98 0 No comment
    NKX2-5 100.00 0 No comment
    NMNAT1 100.00 0 No comment
    NODAL 99.99 0 No comment
    NOG 100.00 0 No comment
    NOTCH2 99.76 0 No comment
    NPC1 98.40 0 No comment
    NPC2 100.00 0 No comment
    NPHP1 100.00 0 No comment
    NPHP3 99.87 0 No comment
    NPRL2 100.00 0 No comment
    NR0B1 100.00 0 No comment
    NR5A1 100.00 0 No comment
    NRAS 100.00 0 No comment
    NSD1 100.00 0 No comment
    NSDHL 100.00 0 No comment
    NSMF 95.23 0 No comment
    NT5C2 100.00 0 No comment
    OBSL1 98.31 0 No comment
    OCLN 100.00 0 No comment
    OCRL 99.77 0 No comment
    OFD1 99.88 0 No comment
    OPHN1 100.00 0 No comment
    SLC25A15 100.00 0 No comment
    ORC4 100.00 0 No comment
    ORC6 100.00 0 No comment
    OTX2 100.00 0 No comment
    PAFAH1B1 100.00 0 No comment
    PALB2 100.00 0 No comment
    PAX2 99.80 0 No comment
    PAX3 100.00 0 No comment
    PAX6 100.00 0 No comment
    PCNT 100.00 0 No comment
    PDE4D 98.77 0 No comment
    PDE6D 100.00 0 No comment
    PDGFB 99.77 0 No comment
    PDGFRB 100.00 0 No comment
    PDHA1 98.17 0 No comment
    PDHB 100.00 0 No comment
    PDHX 99.87 0 No comment
    PDYN 100.00 0 No comment
    PEX1 100.00 0 No comment
    PEX10 88.47 0 No comment
    PEX11B 100.00 0 No comment
    PEX12 100.00 0 No comment
    PEX13 100.00 0 No comment
    PEX14 100.00 0 No comment
    PEX16 100.00 0 No comment
    PEX19 100.00 0 No comment
    PEX2 100.00 0 No comment
    PEX26 100.00 0 No comment
    PEX3 100.00 0 No comment
    PEX5 100.00 0 No comment
    PEX6 98.56 0 No comment
    PEX7 91.13 0 No comment
    PFKM 100.00 0 No comment
    PGM1 100.00 0 No comment
    PHF6 100.00 0 No comment
    PHF8 100.00 0 No comment
    PIGA 100.00 0 No comment
    PIGL 100.00 0 No comment
    PIGV 100.00 0 No comment
    PIK3CA 100.00 0 No comment
    PIK3R2 89.19 0 No comment
    PIP5K1C 95.60 0 No comment
    PITX1 98.27 0 No comment
    PKHD1 100.00 0 No comment
    PLCB4 100.00 0 No comment
    PLEC 99.82 0 No comment
    PLK4 100.00 0 No comment
    PLOD1 99.91 0 No comment
    PLOD3 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMM2 100.00 0 No comment
    PMP22 100.00 0 No comment
    PMS2 99.97 0 No comment
    PNKP 100.00 0 No comment
    POLR1C 100.00 0 No comment
    POLR1D 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMK 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.90 0 No comment
    PORCN 100.00 0 No comment
    POU1F1 100.00 0 No comment
    PQBP1 100.00 0 No comment
    PRDM5 100.00 0 No comment
    PRG4 100.00 0 No comment
    PRKAR1A 100.00 0 No comment
    PROK2 98.51 0 No comment
    PROKR2 100.00 0 No comment
    PROP1 100.00 0 No comment
    PRRX1 100.00 0 No comment
    PRSS56 98.00 0 No comment
    PRX 100.00 0 No comment
    PSAP 100.00 0 No comment
    PSAT1 100.00 0 No comment
    PTCH1 98.48 0 No comment
    PTCH2 100.00 0 No comment
    PTDSS1 100.00 0 No comment
    PTEN 98.86 0 No comment
    PTH1R 99.01 0 No comment
    PTPN11 98.80 0 No comment
    PYCR1 100.00 0 No comment
    RAB18 100.00 0 No comment
    RAB23 100.00 0 No comment
    RAB3GAP1 100.00 0 No comment
    RAB3GAP2 100.00 0 No comment
    RAB40AL 100.00 0 No comment
    RAD21 100.00 0 No comment
    RAD51C 100.00 0 No comment
    RAF1 100.00 0 No comment
    RAI1 96.06 0 No comment
    RAPSN 100.00 0 No comment
    PRKRA 90.07 0 No comment
    RB1 99.04 0 No comment
    RBM10 100.00 0 No comment
    RBM8A 100.00 0 No comment
    RD3 100.00 0 No comment
    RDH12 100.00 0 No comment
    RECQL4 96.37 0 No comment
    RELN 99.96 0 No comment
    RET 98.13 0 No comment
    RIPK4 100.00 0 No comment
    RIT1 100.00 0 No comment
    RMND1 100.00 0 No comment
    RMRP 100.00 0 No comment
    RNASEH2A 100.00 0 No comment
    RNASEH2B 95.67 0 No comment
    RNASEH2C 100.00 0 No comment
    RNU4ATAC 100.00 0 No comment
    ROR2 98.67 0 No comment
    RPE65 100.00 0 No comment
    RPGRIP1 100.00 0 No comment
    RPGRIP1L 96.45 0 No comment
    RPL11 100.00 0 No comment
    RPL15 86.16 0 No comment
    RPL26 100.00 0 No comment
    RPL35A 100.00 0 No comment
    RPL5 99.37 0 No comment
    RPS10 100.00 0 No comment
    RPS17 98.70 0 No comment
    RPS19 100.00 0 No comment
    RPS24 100.00 0 No comment
    RPS26 100.00 0 No comment
    RPS6KA3 98.71 0 No comment
    RPS7 92.83 0 No comment
    RTTN 100.00 0 No comment
    RUNX2 98.51 0 No comment
    RXYLT1 99.84 0 No comment
    RYR1 98.38 0 No comment
    SACS 99.97 0 No comment
    SALL1 100.00 0 No comment
    SALL4 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SATB2 100.00 0 No comment
    SC5D 100.00 0 No comment
    SCARF2 86.46 0 No comment
    SDCCAG8 100.00 0 No comment
    SEC23A 100.00 0 No comment
    SELENON 84.04 0 No comment
    SEMA3A 100.00 0 No comment
    SEMA3E 100.00 0 No comment
    SEPSECS 99.97 0 No comment
    SEPTIN9 100.00 0 No comment
    SETBP1 99.99 0 No comment
    SF3B4 100.00 0 No comment
    SH3PXD2B 99.68 0 No comment
    SHANK3 83.99 0 No comment
    SHH 92.83 0 No comment
    SHOC2 100.00 0 No comment
    SIX1 100.00 0 No comment
    SIX3 99.59 0 No comment
    SIX5 88.67 0 No comment
    SIX6 100.00 0 No comment
    HHAT 90.28 0 No comment
    SLC12A1 100.00 0 No comment
    SLC12A6 100.00 0 No comment
    SLC20A2 100.00 0 No comment
    SLC25A19 100.00 0 No comment
    SLC26A2 99.96 0 No comment
    SLC2A10 98.97 0 No comment
    SLC35A2 100.00 0 No comment
    SLC35A3 100.00 0 No comment
    SLC35D1 99.99 0 No comment
    SLC6A8 98.78 0 No comment
    SLC9A6 99.96 0 No comment
    SLX4 100.00 0 No comment
    SMAD3 100.00 0 No comment
    SMAD4 100.00 0 No comment
    SMARCA4 100.00 0 No comment
    SMARCB1 100.00 0 No comment
    SMARCE1 100.00 0 No comment
    SMC1A 100.00 0 No comment
    SMC3 100.00 0 No comment
    SMOC1 99.36 0 No comment
    SNAP29 100.00 0 No comment
    SNIP1 100.00 0 No comment
    SOS1 100.00 0 No comment
    SOX10 96.79 0 No comment
    SOX2 98.05 0 No comment
    SOX3 85.62 0 No comment
    SOX9 97.88 0 No comment
    SPATA7 100.00 0 No comment
    SPECC1L 100.00 0 No comment
    SPG11 100.00 0 No comment
    SPRED1 100.00 0 No comment
    SPRY4 100.00 0 No comment
    SPTAN1 100.00 0 No comment
    SRD5A2 100.00 0 No comment
    SRD5A3 99.42 0 No comment
    SRY 39.13 0 No comment
    STAC3 100.00 0 No comment
    STAMBP 100.00 0 No comment
    STAT3 100.00 0 No comment
    STS 100.00 0 No comment
    STXBP1 100.00 0 No comment
    SUFU 100.00 0 No comment
    SUMO1 99.91 0 No comment
    SYNE1 100.00 0 No comment
    TACR3 100.00 0 No comment
    TAF2 100.00 0 No comment
    WWTR1 99.81 0 No comment
    TBC1D20 93.59 0 No comment
    TBX1 77.39 0 No comment
    TBX15 100.00 0 No comment
    TBX22 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
    TBXT 100.00 0 No comment
    TCF4 100.00 0 No comment
    TCOF1 99.99 0 No comment
    TCTN1 93.78 0 No comment
    TCTN2 100.00 0 No comment
    TCTN3 100.00 0 No comment
    TECPR2 100.00 0 No comment
    TFAP2A 100.00 0 No comment
    TGFB3 100.00 0 No comment
    TGFBR1 92.91 0 No comment
    TGFBR2 100.00 0 No comment
    TGIF1 100.00 0 No comment
    TMCO1 100.00 0 No comment
    TMEM138 100.00 0 No comment
    TMEM216 100.00 0 No comment
    TMEM231 100.00 0 No comment
    TMEM237 99.97 0 No comment
    TMEM67 100.00 0 No comment
    TMEM70 100.00 0 No comment
    TNNI2 100.00 0 No comment
    TNNT3 100.00 0 No comment
    TNXB 100.00 0 No comment
    TP63 100.00 0 No comment
    TPM2 100.00 0 No comment
    TRAPPC9 99.98 0 No comment
    TREM2 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRIM32 100.00 0 No comment
    TRIP11 100.00 0 No comment
    TRPV4 100.00 0 No comment
    TSC1 100.00 0 No comment
    TSC2 100.00 0 No comment
    TSEN34 100.00 0 No comment
    TSEN54 94.23 0 No comment
    TSPYL1 100.00 0 No comment
    TTC8 100.00 0 No comment
    TUBA1A 100.00 0 No comment
    TUBA8 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    TUBB3 98.24 0 No comment
    TUBGCP6 100.00 0 No comment
    TULP1 100.00 0 No comment
    TWIST1 70.93 0 No comment
    TYR 100.00 0 No comment
    TYROBP 100.00 0 No comment
    UBA1 100.00 0 No comment
    UBB 100.00 0 No comment
    UBE3A 100.00 0 No comment
    UBE3B 100.00 0 No comment
    UFD1 100.00 0 No comment
    UPF3B 100.00 0 No comment
    UPK3A 99.39 0 No comment
    UTRN 100.00 0 No comment
    VANGL1 100.00 0 No comment
    VANGL2 100.00 0 No comment
    VAX1 89.49 0 No comment
    VIPAS39 100.00 0 No comment
    VPS13B 99.25 0 No comment
    VPS33B 100.00 0 No comment
    VSX2 100.00 0 No comment
    VTI1A 100.00 0 No comment
    WASHC5 100.00 0 No comment
    WDPCP 100.00 0 No comment
    WDR11 100.00 0 No comment
    WDR19 100.00 0 No comment
    DYNC2I2 93.01 0 No comment
    WDR35 100.00 0 No comment
    DYNC2I1 99.86 0 No comment
    WDR62 100.00 0 No comment
    WDR81 99.97 0 No comment
    WNT10B 98.99 0 No comment
    WNT3 100.00 0 No comment
    WNT4 92.22 0 No comment
    WNT5A 99.97 0 No comment
    WNT7A 100.00 0 No comment
    WT1 96.46 0 No comment
    WWOX 100.00 0 No comment
    ZBTB18 100.00 0 No comment
    ZDHHC9 100.00 0 No comment
    ZEB2 100.00 0 No comment
    ZFPM2 99.96 0 No comment
    ZFYVE26 100.00 0 No comment
    ZIC1 100.00 0 No comment
    ZIC2 80.54 0 No comment
    ZMPSTE24 100.00 0 No comment
    ZNF423 100.00 0 No comment
    ZNF469 99.70 0 No comment
  • Early-onset severe obesity (44 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY3 100.00 0 only for coding exons and intronic borders +/-14pb
    ALMS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS2 100.00 0 only for coding exons and intronic borders +/-14pb
    ARL6 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS4 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS5 100.00 0 only for coding exons and intronic borders +/-14pb
    MKKS 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS7 100.00 0 only for coding exons and intronic borders +/-14pb
    TTC8 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS9 99.99 0 only for coding exons and intronic borders +/-14pb
    BBS10 100.00 0 only for coding exons and intronic borders +/-14pb
    TRIM32 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS12 100.00 0 only for coding exons and intronic borders +/-14pb
    MKS1 100.00 0 only for coding exons and intronic borders +/-14pb
    CEP290 99.99 0 only for coding exons and intronic borders +/-14pb
    WDPCP 100.00 0 only for coding exons and intronic borders +/-14pb
    SDCCAG8 100.00 0 only for coding exons and intronic borders +/-14pb
    LZTFL1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBIP1 100.00 0 only for coding exons and intronic borders +/-14pb
    IFT27 100.00 0 only for coding exons and intronic borders +/-14pb
    BDNF 100.00 0 only for coding exons and intronic borders +/-14pb
    CREBBP 99.99 0 only for coding exons and intronic borders +/-14pb
    EP300 99.99 0 only for coding exons and intronic borders +/-14pb
    GNAS 99.34 0 only for coding exons and intronic borders +/-14pb
    INPP5E 97.02 0 only for coding exons and intronic borders +/-14pb
    LEP 100.00 1 only for coding exons and intronic borders +/-14pb
    LEPR 99.99 1 only for coding exons and intronic borders +/-14pb
    MAGEL2 99.54 0 only for coding exons and intronic borders +/-14pb
    MC3R 100.00 1 only for coding exons and intronic borders +/-14pb
    MC4R 100.00 1 only for coding exons and intronic borders +/-14pb
    MYT1L 100.00 0 only for coding exons and intronic borders +/-14pb
    NTRK2 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK1 99.99 0 only for coding exons and intronic borders +/-14pb
    PHF6 99.98 0 only for coding exons and intronic borders +/-14pb
    POMC 99.97 1 only for coding exons and intronic borders +/-14pb
    RAB23 100.00 0 only for coding exons and intronic borders +/-14pb
    SETD2 100.00 0 only for coding exons and intronic borders +/-14pb
    SH2B1 100.00 1 only for coding exons and intronic borders +/-14pb
    SIM1 100.00 1 only for coding exons and intronic borders +/-14pb
    TBX3 98.58 0 only for coding exons and intronic borders +/-14pb
    TUB 100.00 0 only for coding exons and intronic borders +/-14pb
    DYRK1B 99.94 0 only for coding exons and intronic borders +/-14pb
    MRAP2 100.00 0 only for coding exons and intronic borders +/-14pb
  • Intellectual disability/Epilepsy (1091 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 99.35 0 Vissers et al., EJHG 2015 : Noonan syndrome
    ABCC9 99.41 0 Hypertrichotic osteochondrodysplasia
    ABCD1 99.49 0 Adrenoleukodystrophy
    ABHD5 98.48 0 Chanarin-Dorfman syndrome
    ACAD9 99.57 0 Mitochondrial complex I deficiency due to ACAD9 deficiency
    ACO2 99.66 0 Infantile cerebellar-retinal degeneration
    ACOX1 99.49 0 Peroxisomal acyl-CoA oxidase deficiency
    ACSL4 91.09 0 Mental retardation, X-linked 63
    ACTB 99.34 0 Baraitser-Winter syndrome 1
    ACTG1 99.69 0 Baraitser-Winter syndrome 2
    ACY1 99.67 0 Aminoacylase 1 deficiency
    ADAR 99.45 0 Aicardi-Goutieres syndrome 6
    ADAT3 81.40 0 Mental retardation, autosomal recessive 36
    ADGRG1 99.67 0 Polymicrogyria, bilateral frontoparietal
    ADK 98.74 0 Hypermethioninemia due to adenosine kinase deficiency
    ADNP 99.55 0 Helsmoortel-van der Aa syndrome
    ADSL 99.58 0 Adenylosuccinase deficiency
    AFF2 90.80 0 Mental retardation, X-linked, FRAXE type
    AGA 99.60 0 Aspartylglucosaminuria
    AGPAT2 91.26 0 Lipodystrophy, congenital generalized, type 1
    AHCY 99.67 0 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
    AHDC1 99.68 0 Xia-Gibbs syndrome
    AHI1 99.05 0 Joubert syndrome 3
    AIMP1 96.88 0 Leukodystrophy, hypomyelinating, 3
    AKT3 98.82 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
    ALDH18A1 99.66 0 Cutis laxa, autosomal recessive, type IIIA
    ALDH3A2 99.31 0 Sjogren-Larsson syndrome
    ALDH4A1 96.44 0 Hyperprolinemia, type II
    ALDH5A1 93.04 0 Succinic semialdehyde dehydrogenase deficiency
    ALDH7A1 99.00 0 Epilepsy, pyridoxine-dependent
    ALG1 99.43 0 Congenital disorder of glycosylation, type Ik
    ALG11 99.57 0 Congenital disorder of glycosylation, type Ip
    ALG12 99.69 0 Congenital disorder of glycosylation, type Ig
    ALG13 92.88 0 Epileptic encephalopathy, early infantile, 36
    ALG2 97.14 0 Myasthenic syndrome, congenital, 14, with tubular aggregates
    ALG3 99.59 0 Congenital disorder of glycosylation, type Id
    ALG6 98.36 0 Congenital disorder of glycosylation, type Ic
    ALG9 96.33 0 Gillessen-Kaesbach-Nishimura syndrome
    ALMS1 98.27 0 Alstrom syndrome
    ALX1 99.52 0 Frontonasal dysplasia 3
    ALX4 99.07 0 Frontonasal dysplasia 2
    AMER1 99.96 0 Osteopathia striata with cranial sclerosis
    AMPD2 99.69 0 Pontocerebellar hypoplasia, type 9
    AMT 99.69 0 Glycine encephalopathy
    ANK3 99.47 0 Mental retardation, autosomal recessive, 37
    ANKH 99.64 0 Craniometaphyseal dysplasia
    ANKRD11 99.68 0 KBG syndrome
    AP1S1 99.50 0 MEDNIK syndrome
    AP1S2 88.78 0 Mental retardation, X-linked syndromic 5
    AP4B1 99.61 0 Spastic paraplegia 47, autosomal recessive
    AP4M1 99.68 0 Spastic paraplegia 50, autosomal recessive
    AP4S1 99.48 0 Spastic paraplegia 52, autosomal recessive
    APTX 99.02 0 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
    ARCN1 99.27 0 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
    ARFGEF2 99.31 0 Periventricular heterotopia with microcephaly
    ARG1 99.53 0 Argininemia
    ARHGAP31 99.60 0 Adams-Oliver syndrome 1
    ARHGEF2 99.64 0 Neurodevelopmental disorder with midbrain and hindbrain malformations
    ARHGEF9 97.26 0 Epileptic encephalopathy, early infantile, 8
    ARID1A 97.02 0 Coffin-Siris syndrome 2
    ARID1B 97.57 0 Coffin-Siris syndrome 1
    ARID2 99.33 0 Coffis-Siris syndrome 6
    ARL13B 98.36 0 Joubert syndrome 8
    ARL6 99.09 0 Bardet-Biedl syndrome 3
    ARSL 90.38 0 Chondrodysplasia punctata, X-linked recessive
    ARX 65.25 0 Mental retardation, X-linked 29 and others
    ASH1L 99.53 0 Okamoto et al., AJMG 2017 : MCA/ID syndrome
    ASNS 99.42 0 Asparagine synthetase deficiency
    ASPA 99.17 0 Canavan disease
    ASPM 98.50 0 Microcephaly 5, primary, autosomal recessive
    ASXL1 95.03 0 Bohring-Opitz syndrome
    ASXL3 98.20 0 Bainbridge-Ropers syndrome
    ATIC 96.73 0 AICA-ribosiduria due to ATIC deficiency
    ATP6V0A2 99.12 0 Cutis laxa, autosomal recessive, type IIA
    ATP7A 94.32 0 Menkes disease
    ATR 99.17 0 Seckel syndrome 1
    ATRIP 95.19 0 Ogi et al., PLoS Genet 2012 : Seckel syndrome
    ATRX 92.10 0 Mental retardation-hypotonic facies syndrome, X-linked
    AUH 96.75 0 3-methylglutaconic aciduria, type I
    AUTS2 97.55 0 Mental retardation, autosomal dominant 26
    B3GLCT 92.21 0 Peters-plus syndrome
    B4GALT1 98.41 0 Congenital disorder of glycosylation, type IId
    B4GALT7 83.36 0 Ehlers-Danlos syndrome with short stature and limb anomalies
    BBIP1 99.64 0 Bardet-Biedl syndrome 18
    BBS1 99.66 0 Bardet-Biedl syndrome 1
    BBS10 99.57 0 Bardet-Biedl syndrome 10
    BBS12 99.52 0 Bardet-Biedl syndrome 12
    BBS2 99.32 0 Bardet-Biedl syndrome 2
    BBS4 99.49 0 Bardet-Biedl syndrome 4
    BBS5 98.49 0 Bardet-Biedl syndrome 5
    BBS7 99.00 0 Bardet-Biedl syndrome 7
    BBS9 98.68 0 Bardet-Biedl syndrome 9
    BCKDHB 98.82 0 Maple syrup urine disease, type Ib
    BCL11A 99.16 0 Dias-Logan syndrome
    BCOR 96.85 0 Microphthalmia, syndromic 2
    BCS1L 99.69 0 Leigh syndrome
    BLM 99.07 0 Bloom syndrome
    BRAF 94.78 0 Noonan syndrome 7
    BRPF1 99.67 0 Intellectual developmental disorder with dysmorphic facies and ptosis
    BRWD3 93.74 0 Mental retardation, X-linked 93
    BSCL2 99.67 0 Encephalopathy, progressive, with or without lipodystrophy
    BTD 99.68 0 Biotinidase deficiency
    BUB1B 99.40 0 Mosaic variegated aneuploidy syndrome 1
    C12ORF57 99.69 0 Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie.
    C19ORF12 99.69 0 Neurodegeneration with brain iron accumulation 4
    C2CD3 99.44 0 Orofaciodigital syndrome XIV
    CPLANE1 98.89 0 Joubert syndrome 17
    CA8 99.19 0 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
    CACNA1A 99.12 0 Epileptic encephalopathy, early infantile, 42
    CACNA1C 99.65 0 Timothy syndrome
    CACNA1D 99.50 0 Primary aldosteronism, seizures, and neurologic abnormalities
    CAMK2A 99.67 0 Mental retardation, autosomal dominant 53
    CAMK2B 96.34 0 Mental retardation, autosomal dominant 54
    CANT1 99.60 0 Desbuquois dysplasia 1
    CASK 95.36 0 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
    CAV1 99.67 0 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
    CAVIN1 99.31 0 Lipodystrophy, congenital generalized, type 4
    CBL 99.54 0 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
    CBS 99.69 0 Homocystinuria, B6-responsive and nonresponsive types
    CC2D1A 99.64 0 Mental retardation, autosomal recessive 3
    CC2D2A 99.11 0 Joubert syndrome 9
    CCDC22 99.91 0 Ritscher-Schinzel syndrome 2
    CCDC39 98.07 0 Ciliary dyskinesia, primary, 14
    CCDC78 99.69 0 Myopathy, centronuclear, 4
    CCDC88C 99.38 0 Hydrocephalus, nonsyndromic, autosomal recessive
    CD96 99.13 0 C syndrome
    CDC45 99.57 0 Meier-Gorlin syndrome 7
    CDC6 99.32 0 Meier-Gorlin syndrome 5
    CDH15 96.19 0 Mental retardation, autosomal dominant 3
    CDK13 95.39 0 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
    CDK5RAP2 99.45 0 Microcephaly 3, primary, autosomal recessive
    CDKL5 87.62 0 Epileptic encephalopathy, early infantile, 2
    CDON 98.90 0 Holoprosencephaly 11
    CDT1 89.72 0 Meier-Gorlin syndrome 4
    CENPJ 99.19 0 Microcephaly 6, primary, autosomal recessive
    CEP135 97.81 0 Microcephaly 8, primary, autosomal recessive
    CEP152 98.40 0 Microcephaly 9, primary, autosomal recessive
    CEP290 97.64 0 Joubert syndrome 5
    CEP41 99.07 0 Joubert syndrome 15
    CEP57 99.09 0 Mosaic variegated aneuploidy syndrome 2
    CEP63 99.06 0 Seckel syndrome 6
    CHAMP1 99.63 0 Mental retardation, autosomal dominant 40
    CHAT 97.70 0 Myasthenic syndrome, congenital, 6, presynaptic
    CHD2 99.18 0 Epileptic encephalopathy, childhood-onset
    CHD4 99.65 0 Sifrim-Hitz-Weiss syndrome
    CHD7 99.53 0 CHARGE syndrome
    CHD8 99.58 0 Autism, susceptibility to, 18
    CHKB 97.97 0 Muscular dystrophy, congenital, megaconial type
    CHMP1A 99.59 0 Pontocerebellar hypoplasia, type 8
    CHRNA4 90.96 0 Epilepsy, nocturnal frontal lobe, 1
    CHRND 99.68 0 Myasthenic syndrome, congenital, 3B, fast-channel
    CISD2 98.61 0 Wolfram syndrome 2
    CLCN4 99.27 0 Mental retardation, X-linked 49/15
    CLN3 99.69 0 Ceroid lipofuscinosis, neuronal, 3
    CLN5 97.69 0 Ceroid lipofuscinosis, neuronal, 5
    CLN6 85.06 0 Ceroid lipofuscinosis, neuronal, 6
    CLN8 99.69 0 Ceroid lipofuscinosis, neuronal, 8
    CLP1 99.68 0 Pontocerebellar hypoplasia, type 10
    CLPB 99.62 0 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
    CNKSR2 91.50 0 Houge et al., Mol Syndromol 2012 : ID
    CNTNAP2 99.39 0 Pitt-Hopkins like syndrome 1
    COASY 99.68 0 Neurodegeneration with brain iron accumulation 6
    COG1 98.34 0 Congenital disorder of glycosylation, type IIg
    COG5 99.11 0 Congenital disorder of glycosylation, type IIi
    COG6 98.39 0 Congenital disorder of glycosylation, type IIl
    COG7 99.66 0 Congenital disorder of glycosylation, type IIe
    COG8 97.38 0 Congenital disorder of glycosylation, type IIh
    COL4A1 97.86 0 Porencephaly 1
    COL4A2 99.62 0 Porencephaly 2
    CERT1 99.15 0 Mental retardation, autosomal dominant 34
    COLEC10 99.16 0 Mental retardation, autosomal dominant 34
    COLEC11 99.67 0 3MC syndrome 2
    COQ2 94.52 0 Coenzyme Q10 deficiency, primary, 1
    COQ4 98.74 0 Coenzyme Q10 deficiency, primary, 7
    COQ6 99.60 0 Coenzyme Q10 deficiency, primary, 6
    COQ7 99.40 0 Coenzyme Q10 deficiency, primary, 8
    COQ8A 99.69 0 Coenzyme Q10 deficiency, primary, 4
    COQ9 98.23 0 Coenzyme Q10 deficiency, primary, 5
    COX10 99.65 0 Leigh syndrome due to mitochondrial COX4 deficiency
    CRADD 99.63 0 Mental retardation, autosomal recessive 34, with variant lissencephaly
    CRBN 98.86 0 Mental retardation, autosomal recessive 2
    CREBBP 99.62 0 Rubinstein-Taybi syndrome 1
    CSNK2A1 99.32 0 Okur-Chung neurodevelopmental syndrome
    CSPP1 98.95 0 Joubert syndrome 21
    CTC1 99.57 0 Cerebroretinal microangiopathy with calcifications and cysts
    CTCF 99.65 0 Mental retardation, autosomal dominant 21
    CTNNB1 99.65 0 Mental retardation, autosomal dominant 19
    CTSA 99.59 0 Galactosialidosis
    CTSD 94.51 0 Ceroid lipofuscinosis, neuronal, 10
    CUL4B 84.65 0 Mental retardation, X-linked, syndromic 15 (Cabezas type)
    CYB5R3 88.44 0 Methemoglobinemia, type I
    CYP27A1 97.94 0 Cerebrotendinous xanthomatosis
    D2HGDH 98.50 0 D-2-hydroxyglutaric aciduria
    DAG1 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
    DARS2 99.20 0 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
    DCAF17 93.81 0 Woodhouse-Sakati syndrome
    DCC 99.55 0 Mirror movements 1 and/or agenesis of the corpus callosum
    DCPS 99.69 0 Al-Raqad syndrome
    DCX 96.94 0 Lissencephaly, X-linked
    DDB2 99.69 0 Xeroderma pigmentosum, group E, DDB-negative subtype
    DDHD2 97.74 0 Spastic paraplegia 54, autosomal recessive
    DDX11 99.66 0 Warsaw breakage syndrome
    DDX3X 96.52 0 Mental retardation, X-linked 102
    DEAF1 92.63 0 Mental retardation, autosomal dominant 24
    DHCR24 99.34 0 Desmosterolosis
    DHCR7 99.68 0 Smith-Lemli-Opitz syndrome
    DHFR 98.50 0 Megaloblastic anemia due to dihydrofolate reductase deficiency
    DHX30 99.51 0 Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities.
    DIAPH1 95.85 0 Seizures, cortical blindness, microcephaly syndrome
    DKC1 91.60 0 Dyskeratosis congenita, X-linked
    DLD 99.08 0 Dihydrolipoamide dehydrogenase deficiency
    DLG3 98.91 0 Mental retardation, X-linked 90
    DLL4 99.61 0 Adams-Oliver syndrome 6
    DNAJC19 97.60 0 3-methylglutaconic aciduria, type V
    DNM1 96.84 0 Epileptic encephalopathy, early infantile, 31
    DNMT3A 99.69 0 Tatton-Brown-Rahman syndrome
    DNMT3B 99.69 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 1
    DOCK6 97.92 0 Adams-Oliver syndrome 2
    DOCK8 99.24 0 Hyper-IgE recurrent infection syndrome, autosomal recessive
    DPAGT1 99.68 0 Congenital disorder of glycosylation, type Ij
    DPH1 99.67 0 Developmental delay with short stature, dysmorphic features, and sparse hair
    DPM1 99.27 0 Congenital disorder of glycosylation, type Ie
    DPP6 99.57 0 Mental retardation, autosomal dominant 33
    DSCAM 99.29 0 Wang et al., Nat Commun 2016 : Autisme
    DYNC1H1 99.50 0 Mental retardation, autosomal dominant 13
    DYRK1A 99.53 0 Mental retardation, autosomal dominant 7
    EARS2 99.64 0 Combined oxidative phosphorylation deficiency 12
    EBF3 98.59 0 Hypotonia, ataxia, and delayed development syndrome
    EBP 99.89 0 MEND syndrome
    ECHS1 98.49 0 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
    EDC3 99.68 0 Mental retardation, autosomal recessive 50
    EEF1A2 88.74 0 Mental retardation, autosomal dominant 38
    EFNB1 99.39 0 Craniofrontonasal dysplasia
    EFTUD2 99.44 0 Mandibulofacial dysostosis, Guion-Almeida type
    EHMT1 95.40 0 Kleefstra syndrome
    EIF2AK3 94.12 0 Wolcott-Rallison syndrome
    EIF2S3 97.88 0 Mental retardation, X-linked, syndromic, Borck type
    ELOVL4 99.45 0 Ichthyosis, spastic quadriplegia, and mental retardation
    ELP2 98.99 0 Mental retardation, autosomal recessive 58
    EML1 96.28 0 Band heterotopia
    EMX2 99.48 0 Schizencephaly
    ENTPD1 99.05 0 Spastic paraplegia 64, autosomal recessive
    EOGT 99.33 0 Adams-Oliver syndrome 4
    EP300 99.56 0 Rubinstein-Taybi syndrome 2
    EPB41L1 99.69 0 Mental retardation, autosomal dominant 11
    EPG5 99.47 0 Vici syndrome
    ERCC2 99.67 0 Cerebrooculofacioskeletal syndrome 2
    ERCC3 99.68 0 Xeroderma pigmentosum, group B
    ERCC4 99.35 0 Xeroderma pigmentosum, type F/Cockayne syndrome
    ERCC5 99.48 0 Xeroderma pigmentosum, group G/Cockayne syndrome
    ERCC6 99.07 0 Cerebrooculofacioskeletal syndrome 1
    ERCC8 99.27 0 Cockayne syndrome, type A
    ERLIN2 99.32 0 Spastic paraplegia 18, autosomal recessive
    ESCO2 98.50 0 Roberts syndrome
    ETHE1 99.60 0 Ethylmalonic encephalopathy
    EXOSC3 99.53 0 Pontocerebellar hypoplasia, type 1B
    EZH2 99.41 0 Weaver syndrome
    EZR 99.63 0 Riecken et al., Hum Mut 2015 : ID
    HYCC1 98.81 0 Leukodystrophy, hypomyelinating, 5
    FARS2 99.56 0 Combined oxidative phosphorylation deficiency 14
    FAT4 99.39 0 Van Maldergem syndrome 2
    FBXL4 99.46 0 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
    FBXO31 93.34 0 Mental retardation, autosomal recessive 45
    FGD1 98.23 0 Mental retardation, X-linked syndromic 16
    FGFR1 99.69 0 Hypogonadotropic hypogonadism 2 with or without anosmia
    FGFR2 99.67 0 Saethre-Chotzen syndrome
    FGFR3 95.86 0 Crouzon syndrome with acanthosis nigricans
    FH 99.29 0 Fumarase deficiency
    FKRP 85.03 0 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
    FKTN 99.13 0 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
    FLNA 99.73 0 Heterotopia, periventricular
    FMN2 99.05 0 Mental retardation, autosomal recessive 47
    FMR1 94.48 0 Fragile X tremor/ataxia syndrome
    FOLR1 99.69 0 Neurodegeneration due to cerebral folate transport deficiency
    FOXG1 84.20 0 Rett syndrome, congenital variant
    FOXP1 99.55 0 Mental retardation with language impairment and with or without autistic features
    FOXP2 99.34 0 Speech-language disorder-1
    FOXRED1 99.63 0 Leigh syndrome due to mitochondrial complex I deficiency
    FRAS1 99.57 0 Fraser syndrome 1
    FREM2 99.23 0 Fraser syndrome 2
    FRMPD4 96.56 0 Mental retardation, X-linked 104
    FTCD 95.82 0 Glutamate formiminotransferase deficiency
    FTL 99.55 0 Neurodegeneration with brain iron accumulation 3
    FTO 99.47 0 Growth retardation, developmental delay, facial dysmorphism
    FTSJ1 99.69 0 Mental retardation, X-linked 9/44
    FUCA1 98.18 0 Fucosidosis
    GABRA3 87.08 0 Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
    GABRB3 94.66 0 Epileptic encephalopathy, early infantile, 43
    GABRG2 99.57 0 Epilepsy, generalized, with febrile seizures plus, type 3
    GALT 99.68 0 Galactosemia
    GAMT 93.42 0 Cerebral creatine deficiency syndrome 2
    GAN 98.90 0 Giant axonal neuropathy-1
    GATAD2B 99.69 0 Mental retardation, autosomal dominant 18
    GATM 94.01 0 Cerebral creatine deficiency syndrome 3
    GBE1 98.82 0 Glycogen storage disease IV
    GCH1 93.92 0 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
    GCSH 86.02 0 Glycine encephalopathy
    GDI1 95.21 0 Mental retardation, X-linked 41
    GFAP 99.69 0 Alexander disease
    GJC2 73.70 0 Leukodystrophy, hypomyelinating, 2
    GLB1 99.56 0 GM1-gangliosidosis, type I
    GLDC 97.83 0 Glycine encephalopathy
    GLI2 98.60 0 Holoprosencephaly 9
    GLI3 99.55 0 Greig cephalopolysyndactyly syndrome
    GLUL 99.68 0 Glutamine deficiency, congenital
    GLYCTK 99.69 0 D-glyceric aciduria
    GM2A 99.68 0 GM2-gangliosidosis, AB variant
    GMPPA 99.69 0 Alacrima, achalasia, and mental retardation syndrome
    GMPPB 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
    GNAI3 99.08 0 Auriculocondylar syndrome 1
    GNAO1 99.66 0 Epileptic encephalopathy, early infantile, 17
    GNAS 97.96 0 Pseudohypoparathyroidism Ia
    GNPAT 97.06 0 Rhizomelic chondrodysplasia punctata, type 2
    GNPTAB 99.49 0 Mucolipidosis II alpha/beta
    GNPTG 90.19 0 Mucolipidosis III gamma
    GNS 99.55 0 Mucopolysaccharidosis type IIID
    GPC3 91.66 0 Simpson-Golabi-Behmel syndrome, type 1
    GPHN 99.58 0 Molybdenum cofactor deficiency C
    GPSM2 99.10 0 Chudley-McCullough syndrome
    GPT2 95.20 0 Mental retardation, autosomal recessive 49
    GRIA3 89.99 0 Mental retardation, X-linked 94
    GRID2 99.47 0 Spinocerebellar ataxia, autosomal recessive 18
    GRIK2 99.13 0 Mental retardation, autosomal recessive, 6
    GRIN1 99.54 0 Mental retardation, autosomal dominant 8
    GRIN2A 99.68 0 Epilepsy, focal, with speech disorder and with or without mental retardation
    GRIN2B 99.66 0 Mental retardation, autosomal dominant 6
    GRIP1 99.65 0 Fraser syndrome 3
    GRM1 99.46 0 Spinocerebellar ataxia 44
    GSS 99.59 0 Glutathione synthetase deficiency
    GTF2E2 98.86 0 Trichothiodystrophy 6, nonphotosensitive
    GTF2H5 99.64 0 Trichothiodystrophy 3, photosensitive
    GTPBP3 97.37 0 Combined oxidative phosphorylation deficiency 23
    GUSB 98.73 0 Mucopolysaccharidosis VII
    HACE1 96.37 0 Spastic paraplegia and psychomotor retardation with or without seizures
    HCFC1 99.76 0 Spastic paraplegia and psychomotor retardation with or without seizures
    HCN1 94.14 0 Epileptic encephalopathy, early infantile, 24
    HDAC4 99.68 0 Fisch et al., AJMG 2016 : ID
    HDAC8 99.17 0 Cornelia de Lange syndrome 5
    HECW2 99.50 0 Neurodevelopmental disorder with hypotonia, seizures, and absent language
    HEPACAM 91.30 0 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
    HERC1 99.49 0 Macrocephaly, dysmorphic facies, and psychomotor retardation
    HERC2 99.66 0 Mental retardation, autosomal recessive 38
    HESX1 98.36 0 Growth hormone deficiency with pituitary anomalies
    HEXA 99.67 0 Tay-Sachs disease
    HEXB 97.84 0 Sandhoff disease, infantile, juvenile, and adult forms
    HGSNAT 94.00 0 Mucopolysaccharidosis type IIIC (Sanfilippo C)
    HIVEP2 99.60 0 Mental retardation, autosomal dominant 43
    HLCS 99.60 0 Holocarboxylase synthetase deficiency
    HNMT 99.26 0 Mental retardation, autosomal recessive 51
    HNRNPH2 99.85 0 Mental retardation, X-linked, syndromic, Bain type
    HNRNPK 99.17 0 Au-Kline syndrome
    HNRNPU 98.33 0 Epileptic encephalopathy, early infantile, 54
    HOXA1 99.65 0 Athabaskan brainstem dysgenesis syndrome
    HPRT1 75.78 0 Lesch-Nyhan syndrome
    HRAS 99.69 0 Costello syndrome
    HSD17B10 99.97 0 HSD10 mitochondrial disease
    HSPG2 98.62 0 Dyssegmental dysplasia, Silverman-Handmaker type
    HUWE1 97.92 0 Mental retardation, X-linked syndromic, Turner type
    IARS1 99.32 0 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
    IARS2 99.11 0 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
    IDS 97.07 0 Mucopolysaccharidosis II
    IDUA 77.72 0 Mucopolysaccharidosis Ih/s
    IER3IP1 98.86 0 Microcephaly, epilepsy, and diabetes syndrome
    IFIH1 99.07 0 Aicardi-Goutieres syndrome 7
    IFT172 99.62 0 Short-rib thoracic dysplasia 10 with or without polydactyly
    IFT27 99.69 0 Bardet-Biedl syndrome 19
    IFT57 98.66 0 Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome
    IGF1 99.63 0 Growth retardation with deafness and mental retardation due to IGF1 deficiency
    IL1RAPL1 93.86 0 Mental retardation, X-linked 21/34
    INPP5E 98.14 0 Joubert syndrome 1
    INTU 98.49 0 Bruel et al., JMG 2017 : oro-facial-digital syndrome
    IQSEC2 97.05 0 Mental retardation, X-linked 1/78
    IRX5 89.09 0 Hamamy syndrome
    CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
    ITGA7 99.67 0 Muscular dystrophy, congenital, due to ITGA7 deficiency
    ITPR1 99.38 0 Spinocerebellar ataxia 29, congenital nonprogressive
    JAM3 99.20 0 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
    KANSL1 99.63 0 Koolen-De Vries syndrome
    KAT6A 99.60 0 Mental retardation, autosomal dominant 32
    KAT6B 99.21 0 Genitopatellar syndrome
    KCNC1 99.05 0 Epilepsy, progressive myoclonic 7
    KCNC3 76.28 0 Spinocerebellar ataxia 13
    KCNH1 98.56 0 Temple-Baraitser syndrome
    KCNJ10 99.68 0 SESAME syndrome
    KCNJ11 99.69 0 Diabetes, permanent neonatal, with or without neurologic features
    KCNK9 99.67 0 Birk-Barel mental retardation dysmorphism syndrome
    KCNMA1 99.54 0 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
    KCNQ2 98.93 0 Epileptic encephalopathy, early infantile, 7
    KCNQ5 96.45 0 Mental retardation, autosomal dominant 46
    KCNT1 98.70 0 Epileptic encephalopathy, early infantile, 14
    KCTD7 95.20 0 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
    KDM1A 96.83 0 Cleft palate, psychomotor retardation, and distinctive facial features
    KDM5C 99.87 0 Mental retardation, X-linked, syndromic, Claes-Jensen type
    KDM6A 94.07 0 Kabuki syndrome 2
    KIAA0586 92.34 0 Joubert syndrome 23
    KIAA0753 99.23 0 Orofaciodigital syndrome XV
    NEXMIF 97.66 0 Mental retardation, X-linked 98
    KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
    KIF1A 99.66 0 Mental retardation, autosomal dominant 9
    KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome
    KIF4A 99.41 0 Mental retardation, X-linked 100
    KIF5A 99.35 0 Myoclonus, intractable, neonatal
    KIF5C 96.19 0 Cortical dysplasia, complex, with other brain malformations 2
    KIF7 99.42 0 Joubert syndrome 12
    KIRREL3 99.66 0 Mental retardation, autosomal dominant 4
    KLC2 99.69 0 Spastic paraplegia, optic atrophy, and neuropathy
    KMT2A 97.93 0 Wiedemann-Steiner syndrome
    KMT2C 99.31 0 Kleefstra syndrome 2
    KMT2D 99.67 0 Kabuki syndrome 1
    KMT2E 98.54 0 Dong et al., Cell Rep 2014 : trouble du spectre autistique
    KMT5B 99.31 0 Stessman et al., Nat Genet 2017 : autisme et retard développemental
    KNL1 92.70 0 Microcephaly 4, primary, autosomal recessive
    KPTN 99.37 0 Mental retardation, autosomal recessive 41
    KRAS 99.32 0 Noonan syndrome 3
    L1CAM 99.66 0 CRASH syndrome
    L2HGDH 98.45 0 L-2-hydroxyglutaric aciduria
    LAMA1 99.13 0 Poretti-Boltshauser syndrome
    LAMA2 99.46 0 Muscular dystrophy, congenital, due to partial LAMA2 deficiency
    LAMB1 99.50 0 Lissencephaly 5
    LAMC3 97.99 0 Cortical malformations, occipital
    LAMP2 93.32 0 Danon disease
    LARGE1 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
    LARP7 97.40 0 Alazami syndrome
    LAS1L 99.76 0 Wilson-Turner syndrome
    LIAS 98.94 0 Hyperglycinemia, lactic acidosis, and seizures
    LIG4 99.55 0 LIG4 syndrome
    LINS1 98.65 0 Mental retardation, autosomal recessive 27
    LIPT1 98.69 0 Lipoyltransferase 1 deficiency
    LMBRD1 96.94 0 Methylmalonic aciduria and homocystinuria, cblF type
    LMNA 99.49 0 Emery-Dreifuss muscular dystrophy 3, AR
    LRP2 99.40 0 Donnai-Barrow syndrome
    LZTFL1 98.67 0 Bardet-Biedl syndrome 17
    LZTR1 99.56 0 Noonan syndrome 10
    MAGEL2 98.06 0 Schaaf-Yang syndrome
    MAN1B1 98.88 0 Mental retardation, autosomal recessive 15
    MAN2B1 99.40 0 Mannosidosis, alpha-, types I and II
    MANBA 99.01 0 Mannosidosis, beta
    MAOA 85.51 0 Brunner syndrome
    MAP2K1 99.62 0 Cardiofaciocutaneous syndrome 3
    MAP2K2 99.01 0 Cardiofaciocutaneous syndrome 4
    MASP1 99.59 0 3MC syndrome 1
    MAT1A 99.66 0 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
    MBD5 99.52 0 Mental retardation, autosomal dominant 1
    MBOAT7 99.50 0 Mental retardation, autosomal recessive 57
    MBTPS2 96.46 0 IFAP syndrome with or without BRESHECK syndrome
    MCCC1 99.50 0 3-Methylcrotonyl-CoA carboxylase 1 deficiency
    MCOLN1 93.43 0 Mucolipidosis IV
    MCPH1 98.40 0 Microcephaly 1, primary, autosomal recessive
    MECP2 89.77 0 Rett syndrome
    MED12 99.82 0 Opitz-Kaveggia syndrome
    MED13L 99.52 0 Mental retardation and distinctive facial features with or without cardiac defects
    MED17 98.79 0 Microcephaly, postnatal progressive, with seizures and brain atrophy
    MED23 98.87 0 Mental retardation, autosomal recessive 18
    MEF2C 99.52 0 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
    MEIS2 99.65 0 Cleft palate, cardiac defects, and mental retardation
    METTL23 99.62 0 Mental retardation, autosomal recessive 44
    MFSD8 99.30 0 Ceroid lipofuscinosis, neuronal, 7
    MID1 97.46 0 Opitz GBBB syndrome, type I
    MKKS 99.58 0 Bardet-Biedl syndrome 6
    MKS1 99.54 0 Bardet-Biedl syndrome 13
    MLYCD 87.33 0 Malonyl-CoA decarboxylase deficiency
    MMACHC 99.68 0 Methylmalonic aciduria and homocystinuria, cblC type
    MOCS1 99.68 0 Molybdenum cofactor deficiency A
    MOCS2 99.48 0 Molybdenum cofactor deficiency B
    MOGS 92.25 0 Congenital disorder of glycosylation, type IIb
    MPDU1 99.69 0 Congenital disorder of glycosylation, type If
    MPDZ 99.22 0 Hydrocephalus, nonsyndromic, autosomal recessive 2
    MPLKIP 99.63 0 Trichothiodystrophy 4, nonphotosensitive
    MTFMT 97.00 0 Combined oxidative phosphorylation deficiency 15
    MTHFR 99.58 0 Homocystinuria due to MTHFR deficiency
    MTM1 94.11 0 Myotubular myopathy, X-linked
    MTOR 99.61 0 Smith-Kingsmore syndrome
    MTR 99.55 0 Homocystinuria-megaloblastic anemia, cblG complementation type
    MTRR 99.33 0 Homocystinuria-megaloblastic anemia, cbl E type
    MVK 99.69 0 Mevalonic aciduria
    MYCN 82.91 0 Feingold syndrome 1
    MYO5A 97.60 0 Griscelli syndrome, type 1
    MYT1L 99.59 0 Mental retardation, autosomal dominant 39
    NAA10 87.47 0 Ogden syndrome
    NACC1 99.66 0 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
    NAGA 99.67 0 Schindler disease, type I
    NAGLU 84.28 0 Mucopolysaccharidosis type IIIB (Sanfilippo B)
    NALCN 99.38 0 Congenital contractures of the limbs and face, hypotonia, and developmental delay
    NARS2 98.96 0 Combined oxidative phosphorylation deficiency 24
    NBN 98.67 0 Nijmegen breakage syndrome
    NDE1 99.69 0 Lissencephaly 4 (with microcephaly)
    NDP 99.56 0 Norrie disease
    NDST1 99.67 0 Mental retardation, autosomal recessive 46
    NDUFA1 97.69 0 Mitochondrial complex I deficiency
    NDUFA11 99.69 0 Mitochondrial complex I deficiency
    NDUFA12 99.64 0 Leigh syndrome due to mitochondrial complex 1 deficiency
    NDUFA2 99.69 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFA9 99.27 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFAF6 89.55 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFS2 99.25 0 Mitochondrial complex I deficiency
    NDUFS3 99.67 0 Leigh syndrome due to mitochondrial complex I deficiency
    NDUFS4 99.05 0 Mitochondrial complex I deficiency
    NDUFS7 99.38 0 Leigh syndrome
    NEDD4L 98.92 0 Periventricular nodular heterotopia 7
    NFIA 99.44 0 Brain malformations and urinary tract defects
    NFIX 99.64 0 Sotos syndrome 2
    NGF 99.66 0 Neuropathy, hereditary sensory and autonomic, type V
    NHEJ1 99.67 0 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
    NHP2 99.64 0 Dyskeratosis congenita, autosomal recessive 2
    NHS 88.25 0 Nance-Horan syndrome
    NIN 99.20 0 Seckel syndrome 7
    NIPBL 98.53 0 Cornelia de Lange syndrome 1
    NKX2-1 92.05 0 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
    NONO 98.37 0 Mental retardation, X-linked, syndromic 34
    NOTCH1 96.74 0 Adams-Oliver syndrome 5
    NPC1 98.34 0 Niemann-Pick disease, type C1
    NPC2 99.67 0 Niemann-pick disease, type C2
    NPHP1 99.24 0 Joubert syndrome 4
    NPHP3 98.15 0 Meckel syndrome 7
    NR2F1 86.66 0 Bosch-Boonstra-Schaaf optic atrophy syndrome
    NR5A1 99.25 0 Adrenocortical insufficiency
    NRAS 99.61 0 Noonan syndrome 6
    NRXN1 99.52 0 Pitt-Hopkins-like syndrome 2
    NSD1 99.26 0 Sotos syndrome 1
    NSDHL 99.39 0 CHILD syndrome
    NSUN2 95.86 0 Mental retardation, autosomal recessive 5
    OCLN 99.47 0 Pseudo-TORCH syndrome 1
    OCRL 92.17 0 Lowe syndrome
    OFD1 92.99 0 Orofaciodigital syndrome I
    OGT 96.41 0 Mental retardation, X-linked 106
    OPHN1 90.64 0 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
    ORC1 99.49 0 Meier-Gorlin syndrome 1
    ORC4 98.60 0 Meier-Gorlin syndrome 2
    ORC6 98.10 0 Meier-Gorlin syndrome 3
    OSGEP 99.65 0 Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome
    OTC 92.10 0 Ornithine transcarbamylase deficiency
    OTUD6B 97.03 0 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
    PACS1 97.17 0 Schuurs-Hoeijmakers syndrome
    PAFAH1B1 98.98 0 Lissencephaly 1
    PAH 99.66 0 Phenylketonuria
    PAK3 87.10 0 Mental retardation, X-linked 30/47
    PANK2 95.75 0 Neurodegeneration with brain iron accumulation 1
    PAX1 82.57 0 Otofaciocervical syndrome 2
    PAX3 99.68 0 Craniofacial-deafness-hand syndrome
    PAX6 99.51 0 Aniridia
    PC 99.69 0 Pyruvate carboxylase deficiency
    PCDH19 99.22 0 Epileptic encephalopathy, early infantile, 9
    PCGF2 99.69 0 Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental
    PCNT 99.50 0 Microcephalic osteodysplastic primordial dwarfism, type II
    PDE4D 97.76 0 Acrodysostosis 2, with or without hormone resistance
    PDHA1 97.16 0 Pyruvate dehydrogenase E1-alpha deficiency
    PDHB 99.40 0 Pyruvate dehydrogenase E1-beta deficiency
    PDHX 98.49 0 Lacticacidemia due to PDX1 deficiency
    PDSS1 82.84 0 Coenzyme Q10 deficiency, primary, 2
    PDSS2 98.95 0 Coenzyme Q10 deficiency, primary, 3
    PEPD 99.61 0 Prolidase deficiency
    PEX1 98.83 0 Peroxisome biogenesis disorder 1A (Zellweger)
    PEX10 83.86 0 Peroxisome biogenesis disorder 6A (Zellweger)
    PEX11B 99.63 0 Peroxisome biogenesis disorder 14B
    PEX12 99.40 0 Peroxisome biogenesis disorder 3A (Zellweger)
    PEX13 99.25 0 Peroxisome biogenesis disorder 11A (Zellweger)
    PEX14 99.66 0 Peroxisome biogenesis disorder 13A (Zellweger)
    PEX16 99.69 0 Peroxisome biogenesis disorder 8A (Zellweger)
    PEX19 99.60 0 Peroxisome biogenesis disorder 12A (Zellweger)
    PEX2 99.69 0 Peroxisome biogenesis disorder 5A (Zellweger)
    PEX26 96.96 0 Peroxisome biogenesis disorder 7A (Zellweger)
    PEX3 98.89 0 Peroxisome biogenesis disorder 10A (Zellweger)
    PEX5 99.15 0 Peroxisome biogenesis disorder 2A (Zellweger)
    PEX6 98.57 0 Peroxisome biogenesis disorder 4A (Zellweger)
    PEX7 90.36 0 Peroxisome biogenesis disorder 9B
    PGAP1 97.25 0 Mental retardation, autosomal recessive 42
    PGAP2 99.68 0 Hyperphosphatasia with mental retardation syndrome 3
    PGAP3 99.15 0 Hyperphosphatasia with mental retardation syndrome 4
    PGK1 99.16 0 Phosphoglycerate kinase 1 deficiency
    PHC1 99.66 0 Microcephaly 11, primary, autosomal recessive
    PHF6 84.23 0 Borjeson-Forssman-Lehmann syndrome
    PHF8 99.04 0 Mental retardation syndrome, X-linked, Siderius type
    PHGDH 99.67 0 Phosphoglycerate dehydrogenase deficiency
    PHIP 95.93 0 Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies
    PIGA 92.30 0 Multiple congenital anomalies-hypotonia-seizures syndrome 2
    PIGG 99.54 0 Mental retardation, autosomal recessive 53
    PIGL 99.59 0 CHIME syndrome
    PIGN 97.78 0 Multiple congenital anomalies-hypotonia-seizures syndrome 1
    PIGO 99.67 0 Hyperphosphatasia with mental retardation syndrome 2
    PIGT 99.63 0 Multiple congenital anomalies-hypotonia-seizures syndrome 3
    PIGV 99.66 0 Hyperphosphatasia with mental retardation syndrome 1
    PIGW 99.68 0 Hyperphosphatasia with mental retardation syndrome 5
    PIGY 99.66 0 Hyperphosphatasia with mental retardation syndrome 6
    PIK3R2 91.70 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
    PLA2G6 99.69 0 Neurodegeneration with brain iron accumulation 2B
    PLCB1 99.15 0 Epileptic encephalopathy, early infantile, 12
    PLCB4 99.09 0 Auriculocondylar syndrome 2
    PLOD1 98.58 0 Ehlers-Danlos syndrome, type VI
    PLP1 99.86 0 Pelizaeus-Merzbacher disease
    PMM2 98.47 0 Congenital disorder of glycosylation, type Ia
    PNKP 99.68 0 Microcephaly, seizures, and developmental delay
    PNP 99.66 0 Immunodeficiency due to purine nucleoside phosphorylase deficiency
    POC1A 99.26 0 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
    POGZ 98.81 0 White-Sutton syndrome
    POLG 99.59 0 Mitochondrial DNA depletion syndrome 4B (MNGIE type)
    POLH 99.55 0 Xeroderma pigmentosum, variant type
    POLR3A 99.40 0 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    POLR3B 99.29 0 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
    POMGNT1 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
    POMGNT2 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
    POMK 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
    POMT1 99.56 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
    POMT2 98.42 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
    PORCN 99.91 0 Focal dermal hypoplasia
    PPM1D 98.20 0 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
    PPP1CB 99.40 0 Noonan syndrome-like disorder with loose anagen hair 2
    PPP2R1A 99.69 0 Mental retardation, autosomal dominant 36
    PPP2R5D 99.64 0 Mental retardation, autosomal dominant 35
    PPT1 99.67 0 Ceroid lipofuscinosis, neuronal, 1
    PQBP1 99.90 0 Renpenning syndrome
    PRICKLE1 99.67 0 Epilepsy, progressive myoclonic 1B
    PRMT7 99.21 0 Short stature, brachydactyly, intellectual developmental disability, and seizures
    PRPS1 98.61 0 Arts syndrome
    PRSS12 98.69 0 Mental retardation, autosomal recessive 1
    PSAP 99.68 0 Krabbe disease, atypical
    PSMD12 99.44 0 Stankiewicz-Isidor syndrome
    PTCH1 97.64 0 Holoprosencephaly 7
    PTCHD1 99.37 0 Autism, susceptibility to, X-linked 4
    PTDSS1 99.56 0 Lenz-Majewski hyperostotic dwarfism
    PTEN 98.68 0 Cowden syndrome 1
    PTPN11 97.30 0 LEOPARD syndrome 1
    PUF60 99.56 0 Verheij syndrome
    PURA 84.89 0 Mental retardation, autosomal dominant 31
    PUS1 93.31 0 Myopathy, lactic acidosis, and sideroblastic anemia 1
    PYCR1 99.67 0 Cutis laxa, autosomal recessive, type IIB
    QDPR 96.67 0 Hyperphenylalaninemia, BH4-deficient, C
    RAB18 98.43 0 Warburg micro syndrome 3
    RAB27A 95.80 0 Griscelli syndrome, type 2
    RAB39B 99.96 0 Mental retardation, X-linked 72
    RAB3GAP1 99.24 0 Warburg micro syndrome 1
    RAB3GAP2 99.14 0 Martsolf syndrome
    RAC1 87.43 0 Mental retardation, autosomal dominant 48
    RAD21 99.34 0 Cornelia de Lange syndrome 4
    RAF1 99.65 0 Noonan syndrome 5
    RAI1 97.85 0 Smith-Magenis syndrome
    RARB 99.52 0 Microphthalmia, syndromic 12
    RARS2 99.20 0 Pontocerebellar hypoplasia, type 6
    RASA2 95.15 0 Aoki et al., JHG 2016 : RASopathie
    RAX 78.51 0 Microphthalmia, isolated 3
    RBBP8 96.69 0 Seckel syndrome 2
    RBM10 99.86 0 TARP syndrome
    RBM28 99.55 0 Alopecia, neurologic defects, and endocrinopathy syndrome
    RBM8A 99.68 0 Thrombocytopenia-absent radius syndrome
    RBPJ 99.36 0 Adams-Oliver syndrome 3
    RECQL4 91.13 0 Baller-Gerold syndrome
    RELN 99.47 0 Lissencephaly 2 (Norman-Roberts type)
    RERE 99.45 0 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
    RFT1 97.48 0 Congenital disorder of glycosylation, type In
    RIT1 99.66 0 Noonan syndrome 8
    RMND1 98.79 0 Combined oxidative phosphorylation deficiency 11
    RNASEH2A 99.69 0 Aicardi-Goutieres syndrome 4
    RNASEH2B 90.13 0 Aicardi-Goutieres syndrome 2
    RNASEH2C 96.74 0 Aicardi-Goutieres syndrome 3
    RNASET2 99.45 0 Leukoencephalopathy, cystic, without megalencephaly
    RNF113A 99.85 0 Trichothiodystrophy 5, nonphotosensitive
    ROGDI 90.00 0 Kohlschutter-Tonz syndrome
    RPGRIP1L 95.44 0 Joubert syndrome 7
    RPIA 98.01 0 Ribose 5-phosphate isomerase deficiency
    RPS6KA3 85.79 0 Coffin-Lowry syndrome
    RRAS 94.39 0 Flex et al., HMG 2014 : RASopathie
    RTEL1 99.69 0 Dyskeratosis congenita, autosomal recessive 5
    RTTN 98.71 0 Microcephaly, short stature, and polymicrogyria with seizures
    SALL1 99.68 0 Townes-Brocks branchiootorenal-like syndrome
    SAMHD1 99.47 0 Aicardi-Goutieres syndrome 5
    SATB2 99.46 0 Glass syndrome
    SC5D 99.08 0 Lathosterolosis
    SCN1A 98.95 0 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
    SCN2A 98.85 0 Epileptic encephalopathy, early infantile, 11
    SCN8A 99.37 0 Epileptic encephalopathy, early infantile, 13
    SCO2 99.68 0 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
    SDCCAG8 99.19 0 Bardet-Biedl syndrome 16
    SDHAF1 66.11 0 Mitochondrial complex II deficiency
    SEPSECS 99.07 0 Pontocerebellar hypoplasia type 2D
    SERAC1 98.98 0 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
    SETBP1 98.39 0 Mental retardation, autosomal dominant 29
    SETD2 99.30 0 Luscan-Lumish syndrome
    SETD5 99.55 0 Mental retardation, autosomal dominant 23
    SGSH 96.47 0 Mucopolysaccharidosis type IIIA (Sanfilippo A)
    SHANK2 83.77 0 Autism susceptibility 17
    SHANK3 78.63 0 Phelan-McDermid syndrome
    SHH 90.25 0 Holoprosencephaly 3
    SHOC2 97.89 0 Noonan-like syndrome with loose anagen hair
    SHROOM4 99.52 0 Stocco dos Santos X-linked mental retardation syndrome
    SIL1 99.65 0 Marinesco-Sjogren syndrome
    SIN3A 99.56 0 Witteveen-Kolk syndrome
    SIX3 89.54 0 Holoprosencephaly 2
    SKI 93.23 0 Shprintzen-Goldberg syndrome
    SLC12A6 99.13 0 Agenesis of the corpus callosum with peripheral neuropathy
    SLC16A2 99.71 0 Allan-Herndon-Dudley syndrome
    SLC17A5 98.53 0 Salla disease
    SLC19A3 99.50 0 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
    SLC1A4 97.40 0 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
    SLC25A1 86.05 0 Combined D-2- and L-2-hydroxyglutaric aciduria
    SLC25A12 99.45 0 Epileptic encephalopathy, early infantile, 39
    SLC25A15 99.57 0 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
    SLC25A19 99.66 0 Microcephaly, Amish type
    SLC25A22 99.68 0 Epileptic encephalopathy, early infantile, 3
    SLC2A1 93.34 0 GLUT1 deficiency syndrome 1, infantile onset, severe
    SLC33A1 98.70 0 Congenital cataracts, hearing loss, and neurodegeneration
    SLC35A2 99.98 0 Congenital disorder of glycosylation, type IIm
    SLC35C1 99.69 0 Congenital disorder of glycosylation, type IIc
    SLC45A1 92.61 0 Intellectual developmental disorder with neuropsychiatric features
    SLC46A1 97.75 0 Folate malabsorption, hereditary
    SLC4A4 99.23 0 Renal tubular acidosis, proximal, with ocular abnormalities
    SLC6A1 99.61 0 Myoclonic-atonic epilepsy
    SLC6A17 99.68 0 Mental retardation, autosomal recessive 48
    SLC6A3 99.68 0 Parkinsonism-dystonia, infantile
    SLC6A8 92.97 0 Cerebral creatine deficiency syndrome 1
    SLC7A7 99.67 0 Lysinuric protein intolerance
    SLC9A6 80.47 0 Mental retardation, X-linked syndromic, Christianson type
    SMARCA2 97.63 0 Nicolaides-Baraitser syndrome
    SMARCA4 99.68 0 Coffin-Siris syndrome 4
    SMARCB1 99.47 0 Coffin-Siris syndrome 3
    SMARCE1 98.87 0 Coffin-Siris syndrome 5
    SMC1A 97.41 0 Cornelia de Lange syndrome 2
    SMC3 98.62 0 Cornelia de Lange syndrome 3
    SMOC1 98.99 0 Microphthalmia with limb anomalies
    SMPD1 99.68 0 Niemann-Pick disease, type A
    SMS 83.70 0 Mental retardation, X-linked, Snyder-Robinson type
    SNAP29 98.97 0 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
    SNIP1 99.59 0 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
    SNX14 97.83 0 Spinocerebellar ataxia, autosomal recessive 20
    SOBP 96.13 0 Mental retardation, anterior maxillary protrusion, and strabismus
    SON 99.42 0 ZTTK syndrome
    SOS1 98.22 0 Noonan syndrome 4
    SOS2 98.32 0 Noonan syndrome 9
    SOX10 93.26 0 Waardenburg syndrome, type 2E, with or without neurologic involvement
    SOX11 84.37 0 Mental retardation, autosomal dominant, 27
    SOX2 95.94 0 Optic nerve hypoplasia and abnormalities of the central nervous system
    SOX5 99.56 0 Lamb-Shaffer syndrome
    AFG2A 98.88 0 Epilepsy, hearing loss, and mental retardation syndrome
    SPECC1L 99.49 0 Opitz GBBB syndrome, type II
    SPR 77.10 0 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
    SPRED1 99.22 0 Legius syndrome
    SPTAN1 99.48 0 Epileptic encephalopathy, early infantile, 5
    SRCAP 99.65 0 Floating-Harbor syndrome
    SRD5A3 96.86 0 Congenital disorder of glycosylation, type Iq
    ST3GAL3 99.66 0 Mental retardation, autosomal recessive 12
    ST3GAL5 85.32 0 Salt and pepper developmental regression syndrome
    STAG1 98.01 0 Mental retardation, autosomal dominant 47
    STAMBP 99.58 0 Microcephaly-capillary malformation syndrome
    STIL 99.24 0 Microcephaly 7, primary, autosomal recessive
    STRA6 99.67 0 Microphthalmia, syndromic 9
    STT3A 99.55 0 Congenital disorder of glycosylation, type Iw
    STT3B 95.54 0 Congenital disorder of glycosylation, type Ix
    STX1B 99.68 0 Generalized epilepsy with febrile seizures plus, type 9
    STXBP1 99.55 0 Epileptic encephalopathy, early infantile, 4
    SUCLG1 98.06 0 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
    SUOX 99.68 0 Sulfite oxidase deficiency
    SURF1 86.96 0 Leigh syndrome, due to COX IV deficiency
    SYN1 88.25 0 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
    SYNCRIP 99.45 0 Lelieveld et al., Nat Neurosci 2016 : ID
    SYNE1 99.44 0 Spinocerebellar ataxia, autosomal recessive 8
    SYNGAP1 99.68 0 Mental retardation, autosomal dominant 5
    SYP 93.14 0 Mental retardation, X-linked 96
    SYT14 88.69 0 Spinocerebellar ataxia, autosomal recessive 11
    TAF1 97.05 0 Mental retardation, X-linked, syndromic 33
    TAF2 98.57 0 Mental retardation, autosomal recessive 40
    TBC1D23 97.70 0 Pontocerebellar hypoplasia, type 11
    TBC1D24 99.68 0 Epileptic encephalopathy, early infantile, 16
    TBC1D7 98.94 0 Macrocephaly/megalencephaly syndrome, autosomal recessive
    TBCE 98.41 0 Hypoparathyroidism-retardation-dysmorphism syndrome
    TBCK 98.05 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
    TBL1XR1 98.00 0 Mental retardation, autosomal dominant 41
    TCF20 99.69 0 Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie
    TCF4 99.65 0 Pitt-Hopkins syndrome
    TCOF1 99.61 0 Treacher Collins syndrome 1
    TCTN1 99.08 0 Joubert syndrome 13
    TCTN2 99.05 0 Joubert syndrome 24
    TCTN3 99.61 0 Joubert syndrome 18
    TECPR2 99.41 0 Spastic paraplegia 49, autosomal recessive
    TECR 99.69 0 Mental retardation, autosomal recessive 14
    TFAP2A 99.48 0 Branchiooculofacial syndrome
    TGIF1 99.69 0 Holoprosencephaly 4
    TH 98.57 0 Segawa syndrome, recessive
    THOC2 91.08 0 Mental retardation, X-linked 12/35
    THOC6 99.66 0 Beaulieu-Boycott-Innes syndrome
    THRA 99.60 0 Hypothyroidism, congenital, nongoitrous, 6
    TIMM8A 99.66 0 Mohr-Tranebjaerg syndrome
    TINF2 99.67 0 Dyskeratosis congenita, autosomal dominant 3
    TMCO1 95.48 0 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
    TMEM107 99.69 0 Orofaciodigital syndrome XVI
    TMEM138 99.68 0 Joubert syndrome 16
    TMEM165 87.14 0 Congenital disorder of glycosylation, type IIk
    TMEM216 99.69 0 Joubert syndrome 2
    TMEM231 99.62 0 Joubert syndrome 20
    TMEM237 97.88 0 Joubert syndrome 14
    TMEM67 97.57 0 Joubert syndrome 6
    TMEM70 97.01 0 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
    TNK2 99.30 0 Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID
    TPK1 98.92 0 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
    TPP1 99.65 0 Spinocerebellar ataxia, autosomal recessive 7
    TRAPPC11 98.70 0 Muscular dystrophy, limb-girdle, type 2S
    TRAPPC9 99.57 0 Mental retardation, autosomal recessive 13
    TREX1 99.69 0 Aicardi-Goutieres syndrome 1, dominant and recessive
    TRIM32 99.68 0 Bardet-Biedl syndrome 11
    TRIO 97.17 0 Mental retardation, autosomal dominant 44
    TRIP12 99.18 0 Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
    TRMT10A 99.08 0 Microcephaly, short stature, and impaired glucose metabolism 1
    TRMU 94.99 0 Liver failure, transient infantile
    TRPV4 99.64 0 Spondylometaphyseal dysplasia, Kozlowski type
    TSEN2 99.60 0 Pontocerebellar hypoplasia type 2B
    TSEN54 87.28 0 Pontocerebellar hypoplasia type 2A
    TSFM 85.15 0 Combined oxidative phosphorylation deficiency 3
    TSPAN7 98.69 0 Mental retardation, X-linked 58
    SKIC3 99.17 0 Trichohepatoenteric syndrome 1
    TTC8 98.67 0 Bardet-Biedl syndrome 8
    TTI2 99.57 0 Mental retardation, autosomal recessive 39
    TUBA1A 99.69 0 Lissencephaly 3
    TUBA8 97.24 0 Cortical dysplasia, complex, with other brain malformations 8
    TUBB2A 95.11 0 Cortical dysplasia, complex, with other brain malformations 5
    TUBB2B 99.68 0 Cortical dysplasia, complex, with other brain malformations 7
    TUBB3 94.69 0 Cortical dysplasia, complex, with other brain malformations 1
    TUBB4A 98.34 0 Leukodystrophy, hypomyelinating, 6
    TUBG1 99.69 0 Cortical dysplasia, complex, with other brain malformations 4
    TUBGCP6 99.69 0 Microcephaly and chorioretinopathy, autosomal recessive, 1
    TUSC3 99.45 0 Mental retardation, autosomal recessive 7
    TWIST1 59.51 0 Saethre-Chotzen syndrome
    UBE2A 81.32 0 Mental retardation, X-linked syndromic, Nascimento-type
    UBE3A 98.84 0 Angelman syndrome
    UBE3B 99.43 0 Kaufman oculocerebrofacial syndrome
    UBR1 98.99 0 Johanson-Blizzard syndrome
    UNC80 99.46 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
    UPF3B 90.82 0 Mental retardation, X-linked, syndromic 14
    UQCRQ 99.62 0 Mitochondrial complex III deficiency, nuclear type 4
    UROC1 99.69 0 Urocanase deficiency
    USP18 99.69 0 Pseudo-TORCH syndrome 2
    USP9X 93.59 0 Mental retardation, X-linked 99
    VLDLR 97.10 0 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
    VPS13B 98.95 0 Cohen syndrome
    VRK1 99.08 0 Pontocerebellar hypoplasia type 1A
    WAC 97.24 0 Desanto-Shinawi syndrome
    WDPCP 98.77 0 Bardet-Biedl syndrome 15
    WDR26 99.46 0 Skraban-Deardorff syndrome
    WDR45 99.94 0 Neurodegeneration with brain iron accumulation 5
    WDR45B 98.84 0 Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia
    WDR62 99.58 0 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
    WDR73 99.54 0 Galloway-Mowat syndrome
    WDR81 99.65 0 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
    WWOX 99.63 0 Epileptic encephalopathy, early infantile, 28
    XPA 95.49 0 Xeroderma pigmentosum, group A
    XPC 99.66 0 Xeroderma pigmentosum, group C
    XYLT1 91.40 0 Desbuquois dysplasia 2
    YAP1 95.59 0 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
    YY1 97.61 0 Gabriele-de Vries syndrome
    ZBTB16 99.69 0 Skeletal defects, genital hypoplasia, and mental retardation
    ZBTB18 99.10 0 Mental retardation, autosomal dominant 22
    ZBTB20 99.63 0 Primrose syndrome
    ZBTB24 99.63 0 Immunodeficiency-centromeric instability-facial anomalies syndrome-2
    ZC4H2 97.81 0 Wieacker-Wolff syndrome
    ZDHHC9 98.90 0 Mental retardation, X-linked syndromic, Raymond type
    ZEB2 99.54 0 Mowat-Wilson syndrome
    ZFYVE26 99.53 0 Spastic paraplegia 15, autosomal recessive
    ZIC2 67.20 0 Holoprosencephaly 5
    ZMPSTE24 98.68 0 Mandibuloacral dysplasia with type B lipodystrophy
    ZMYND11 99.50 0 Mental retardation, autosomal dominant 30
    ZNF335 99.63 0 Microcephaly 10, primary, autosomal recessive
    ZNF41 99.90 0 Shoichet et al., AJHG 2013 : X-Linked Mental Retardation
    ZNF711 89.61 0 Mental retardation, X-linked 97
  • 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 ,
  • Retinal dystrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA4 99.30 1
    ABCC6 98.57 1
    ABHD12 99.98 1
    ACBD5 99.97 1
    ACO2 99.99 1
    ADAM9 99.89 1
    ADAMTS18 99.99 1
    ADGRA3 99.90 1
    ADGRV1 99.80 1
    ADIPOR1 99.83 1
    AFG3L2 99.97 1
    AGBL5 99.98 1
    AHI1 99.86 1
    AHR 99.79 1
    AIPL1 100.00 1
    ALMS1 99.90 1
    ARHGEF18 99.97 1
    ARL2BP 99.89 1
    ARL3 99.98 1
    ARL6 99.90 1
    ARMS2 100.00 1
    ARSG 100.00 1
    ASRGL1 99.84 1
    ATF6 98.19 1
    ATXN7 99.98 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
    BEST1 99.86 1
    MFRP 100.00 1
    C2 99.99 1
    C3 100.00 1
    CA4 100.00 1
    CABP4 100.00 1
    CACNA1F 99.94 1
    CACNA2D4 99.99 1
    CAPN5 99.88 1
    CC2D2A 99.95 1
    CCT2 98.46 1
    CDH23 99.95 1
    CDH3 99.98 1
    CDHR1 99.72 1
    CEP164 99.99 1
    CEP19 99.99 1
    CEP250 99.93 1
    CEP290 98.10 1
    CEP78 99.95 1
    CERKL 99.91 1
    CFAP410 100.00 1
    CFAP418 100.00 1
    CFB 99.97 1
    CFH 99.12 1
    CHM 96.46 1
    CIB2 100.00 1
    CLCC1 93.17 1
    CLN3 99.92 1
    CLRN1 99.99 1
    CLUAP1 99.95 1
    CNGA1 99.60 1
    CNGA3 99.95 1
    CNGB1 97.53 1
    CNGB3 99.96 1
    CNNM4 99.93 1
    COL11A1 90.72 1
    COL2A1 99.87 1
    COL9A1 99.91 1
    CRB1 99.73 1
    CRX 99.96 1
    CSPP1 98.31 1
    CTNNA1 99.98 1
    CWC27 99.67 1
    CYP4V2 99.98 1
    DHDDS 98.65 1
    DHX38 99.97 1
    DMD 99.76 1
    DRAM2 96.06 1
    DTHD1 99.92 1
    DYNC2H1 99.66 1
    EFEMP1 99.68 1
    ELOVL1 100.00 1
    ELOVL4 99.91 1
    EMC1 99.85 1
    ERCC6 99.60 1
    ESPN 100.00 1
    EXOSC2 100.00 1
    EYS 99.86 1
    FAM161A 99.77 1
    FBLN5 100.00 1
    FBN2 99.90 1
    FLVCR1 99.91 1
    FSCN2 100.00 1
    FZD4 100.00 1
    GDF6 100.00 1
    GNAT1 100.00 1
    GNAT2 99.87 1
    GNB3 100.00 1
    GNPTG 100.00 1
    GPR179 99.99 1
    GRID2 99.97 1
    GRK1 99.99 1
    GRM6 100.00 1
    GUCA1A 100.00 1
    GUCA1B 99.99 1
    GUCY2D 100.00 1
    HARS1 99.96 1
    HGSNAT 99.93 1
    HK1 99.97 1
    HMCN1 99.44 1
    HMX1 100.00 1
    HTRA1 100.00 1
    IDH3A 99.98 1
    IDH3B 100.00 1
    IFT140 100.00 1
    IFT172 99.98 1
    IFT27 100.00 1
    IFT43 99.97 1
    IFT81 94.64 1
    IFT88 98.26 1
    IMPDH1 92.77 1
    IMPG1 99.93 1
    IMPG2 99.97 1
    INPP5E 99.85 1
    INVS 99.94 1
    IQCB1 99.72 1
    ITM2B 99.85 1
    JAG1 100.00 1
    KCNJ13 99.99 1
    KCNV2 99.97 1
    KIAA1549 99.98 1
    KIF11 99.84 1
    KIF3B 99.99 1
    KIZ 99.98 1
    KLHL7 99.95 1
    LAMA1 99.98 1
    LAMB2 99.99 1
    LCA5 99.89 1
    LRAT 100.00 1
    LRIT3 100.00 1
    LRP5 99.95 1
    LZTFL1 100.00 1
    MAK 99.47 1
    MAPKAPK3 99.97 1
    MERTK 98.90 1
    MFN2 99.98 1
    MFSD8 99.70 1
    MIR204 100.00 1
    MKKS 100.00 1
    MKS1 99.92 1
    MTRFR 99.87 1
    MTTP 99.92 1
    MVK 99.97 1
    MYO7A 99.96 1
    NBAS 99.86 1
    NDP 99.98 1
    NEK2 95.09 1
    NEUROD1 100.00 1
    NMNAT1 99.93 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NR2E3 100.00 1
    NR2F1 99.99 1
    NRL 100.00 1
    NYX 100.00 1
    OAT 90.17 1
    OFD1 99.68 1
    MED12 99.95 1
    OPA3 100.00 1
    OPN1LW 71.75 1
    OPN1MW 30.23 1
    OPN1SW 99.97 1
    OTX2 100.00 1
    PANK2 99.99 1
    PAX2 99.99 1
    PCARE 100.00 1
    PCDH15 99.71 1
    PCYT1A 100.00 1
    PDE6A 99.98 1
    PDE6B 100.00 1
    PDE6C 99.91 1
    PDE6G 100.00 1
    PDE6H 99.97 1
    PDZD7 98.09 1
    PEX1 98.80 1
    PEX2 100.00 1
    PEX6 99.99 1
    PEX7 99.72 1
    PGK1 99.93 1
    PHYH 100.00 1
    PITPNM3 99.98 1
    PLA2G5 99.91 1
    PLK4 99.89 1
    PNPLA6 99.99 1
    POC1B 100.00 1
    POC5 99.85 1
    POMGNT1 99.69 1
    PRCD 100.00 1
    PRDM13 99.99 1
    PROM1 99.97 1
    PRPF3 99.73 1
    PRPF31 99.99 1
    PRPF4 99.96 1
    PRPF6 99.98 1
    PRPF8 99.98 1
    PRPH2 99.98 1
    PRPS1 99.95 1
    RAB28 99.97 1
    RAX2 100.00 1
    RB1 99.84 1
    RBP3 99.99 1
    RBP4 99.99 1
    RCBTB1 99.99 1
    RD3 100.00 1
    RDH11 99.99 1
    RDH12 99.98 1
    RDH5 100.00 1
    REEP6 100.00 1
    RGR 99.79 1
    RGS9BP 100.00 1
    RHO 100.00 1
    RIMS1 99.85 1
    RIMS2 99.97 1
    RLBP1 99.99 1
    ROM1 100.00 1
    MAPRE2 99.98 1
    RP1L1 100.00 1
    RP2 99.58 1
    RP9 99.83 1
    RPE65 98.99 1
    RPGR 94.45 1
    RPGRIP1 99.95 1
    RPGRIP1L 96.35 1
    RS1 99.92 1
    RTN4IP1 99.98 1
    SAG 99.98 1
    SAMD11 100.00 1
    SAMD7 99.99 1
    SCAPER 99.75 1
    SCLT1 95.17 1
    SDCCAG8 100.00 1
    SEMA4A 99.81 1
    SF3B2 99.98 1
    SLC24A1 99.92 1
    SLC25A46 99.88 1
    SLC6A6 99.98 1
    SLC7A14 99.99 1
    SNRNP200 99.60 1
    SPATA7 99.80 1
    GPKOW 100.00 1
    TEAD1 99.97 1
    TIMM8A 100.00 1
    TIMP3 100.00 1
    TLR3 99.99 1
    TLR4 99.99 1
    TMEM126A 99.88 1
    TMEM216 99.98 1
    TMEM237 99.30 1
    TOPORS 99.99 1
    TREX1 100.00 1
    TRIM32 100.00 1
    TRNT1 99.97 1
    TRPM1 99.96 1
    TSPAN12 99.89 1
    TTC8 99.67 1
    TTLL5 99.95 1
    TTPA 99.88 1
    TUB 100.00 1
    TUBGCP4 99.80 1
    TUBGCP6 100.00 1
    TULP1 99.99 1
    UNC119 100.00 1
    USH1C 99.99 1
    USH1G 100.00 1
    USH2A 99.88 1
    VCAN 99.99 1
    WDPCP 99.87 1
    WDR19 99.80 1
    WFS1 99.99 1
    WHRN 99.96 1
    ZNF408 99.99 1
    ZNF423 98.94 1
    ZNF513 99.97 1