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Centre de Génétique-Institut de Pathologie et de Génétique (IPG)

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Name of the laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Abbreviation:
IPG
RIZIV number:
85299028-996
Address:

Avenue Georges Lemaître, 25
6041 Gosselies
Hainaut
Belgium
Telephone:
0032 7 147 3047
Fax:
0032 7 147 1520
E-mail:
accueil@ipg.be
URL:
http://www.ipg.be/
https://ng3.economie.fgov.be/NI/belac/medilabs/scope_pdf/381-MED.pdf
EQA:
2016 DNA Sequencing – NGS (vGermline) EMQN
2017 DNA Sequencing – NGS (vGermline) EMQN
2018 DNA Sequencing – NGS (vGermline) EMQN
2019 DNA Sequencing – NGS (vGermline) EMQN
2020 DNA Sequencing – NGS (vGermline) EMQN
2021 DNA Sequencing – NGS (vGermline) EMQN
2022 DNA Sequencing – NGS (vGermline) EMQN
2023 DNA Sequencing – NGS (vGermline) EMQN
2015 DNA Sequencing - Sanger EMQN
2016 DNA Sequencing - Sanger EMQN
2017 DNA Sequencing - Sanger EMQN
2018 DNA Sequencing - Sanger EMQN
2019 DNA Sequencing - Sanger EMQN
2020 DNA Sequencing - Sanger EMQN
2021 DNA Sequencing - Sanger EMQN
2022 DNA Sequencing - Sanger EMQN
2023 DNA Sequencing - Sanger EMQN
2017 Somatic NGS mutation testing EMQN
2019 Somatic NGS mutation testing EMQN
2015 Blood -postnatal GenQA (Genomics Quality Assessment)
2016 Blood -postnatal GenQA (Genomics Quality Assessment)
2017 Blood -postnatal GenQA (Genomics Quality Assessment)
2018 Blood -postnatal GenQA (Genomics Quality Assessment)
2019 Blood -postnatal GenQA (Genomics Quality Assessment)
2020 Blood postnatal GenQA (Genomics Quality Assessment)
2021 Recurrent miscarriage karyotyping GenQA (Genomics Quality Assessment)
2021 Sex chromosome disorders karyotyping GenQA (Genomics Quality Assessment)
2022 Postnatal karyotyping GenQA (Genomics Quality Assessment)
2023 Postnatal karyotyping GenQA (Genomics Quality Assessment)
2021 Pregnancy loss GenQA (Genomics Quality Assessment)
2022 Pregnancy loss GenQA (Genomics Quality Assessment)
2023 Pregnancy loss GenQA (Genomics Quality Assessment)
2016 Molecular Rapid aneuploidy QF-PCR/MLPA/BoBs GenQA (Genomics Quality Assessment)
2017 Molecular Rapid aneuploidy QF-PCR/MLPA/BoBs GenQA (Genomics Quality Assessment)
2018 Molecular Rapid aneuploidy QF-PCR/MLPA/BoBs GenQA (Genomics Quality Assessment)
2019 Molecular Rapid aneuploidy QF-PCR/MLPA/BoBs GenQA (Genomics Quality Assessment)
2021 Rapid prenatal testing for common aneuploidies GenQA (Genomics Quality Assessment)
2023 Rapid prenatal testing for common aneuploidies GenQA (Genomics Quality Assessment)
2015 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2016 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2017 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2018 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2019 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2020 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2021 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2022 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2023 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2015 Postnatal constitutional CNV detection (array) GenQA (Genomics Quality Assessment)
2016 Postnatal constitutional CNV detection (array) GenQA (Genomics Quality Assessment)
2017 Postnatal constitutional CNV detection (array) GenQA (Genomics Quality Assessment)
2018 Postnatal constitutional CNV detection (array) GenQA (Genomics Quality Assessment)
2019 Postnatal constitutional CNV detection (array) GenQA (Genomics Quality Assessment)
2020 Postnatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2021 Postnatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2022 Postnatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2023 Postnatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2021 Pathogenicity of germline sequence variant GenQA (Genomics Quality Assessment)
2022 Pathogenicity of germline sequence variant GenQA (Genomics Quality Assessment)
2023 Pathogenicity of germline sequence variant GenQA (Genomics Quality Assessment)
Created:
07 May 2018 - 08:13
Changed:
22 Jan 2024 - 10:19
  • Alport (X-linked and recessive) (3 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    COL4A5 100.00 1 NM_033380.3
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
  • Angioedema (7 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    PLG 100.00 1 NM_000301.4
    F12 100.00 1 NM_000505.3
    SERPING1 100.00 1 NM_000062.3
    KNG1 100.00 1 NM_001102416.3
    ANGPT1 100.00 1 NM_001146.5
    HS3ST6 100.00 1 NM_001009606.4
    MYOF 100.00 1 NM_013451.4
  • Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS13 100.00 1 NM_139027.6
    C3 100.00 1 NM_000064.4
    C5 100.00 1 NM_001735.3
    CD46 100.00 1 NM_172351.3
    CFB 100.00 1 NM_001710.6
    CFH 100.00 1 NM_000186.4
    CFHR1 93.00 1 NM_002113.3
    CFHR2 91.00 1 NM_005666.4
    CFHR3 100.00 1 NM_021023.6
    CFHR4 100.00 1 NM_001201550.3
    CFHR5 100.00 1 NM_030787.4
    CFI 100.00 1 NM_000204.5
    DGKE 100.00 1 NM_003647.3
    MMACHC 100.00 1 NM_015506.3
    PLG 100.00 1 NM_000301.5
    THBD 100.00 1 NM_000361.3
  • Autism (57 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADARB2 100.00 1 NM_018702.4
    ADNP 100.00 1 NM_001282531.3
    ANK2 100.00 1 NM_001148.6
    ANKRD11 100.00 1 NM_013275.6
    ARID1B 98.00 1 NM_001374828.1
    BCKDK 100.00 1 NM_005881.4
    CACNA1C 100.00 1 NM_000719.7
    CHD3 100.00 1 NM_001005273.3
    CHD7 100.00 1 NM_017780.4
    CHD8 100.00 1 NM_001170629.2
    CHRNA7 0.00 1 NM_000746.6 / Exons 1-4 (5-10 not covered) / % unknown
    CNTNAP2 100.00 1 NM_014141.6
    CNTNAP4 100.00 1 NM_033401.5
    DHCR7 100.00 1 NM_001360.3
    DYRK1A 100.00 1 NM_001347721.2
    FMR1 100.00 1 NM_002024.6
    FOXP1 100.00 1 NM_032682.6
    FOXP2 100.00 1 NM_014491.4
    GRIN2A 100.00 1 NM_001134407.3
    GRIN2B 100.00 1 XM_011520629.2
    HDAC4 100.00 1 NM_006037.3
    KATNAL2 100.00 1 NM_031303.3
    KCNB1 100.00 1 NM_004975.4
    MECP2 100.00 1 NM_001110792.2 and NM_004992.3
    MEF2C 100.00 1 NM_002397.5
    MTOR 100.00 1 NM_004958.4
    NIPBL 100.00 1 NM_133433.4
    NLGN1 100.00 1 NM_014932.5
    NLGN3 100.00 1 NM_181303.2
    NLGN4X 100.00 1 NM_181332.3
    NLGN4Y 100.00 1 NM_014893.4
    NRXN1 100.00 1 NM_001330078.2
    NRXN2 100.00 1 NM_015080.4
    NRXN3 100.00 1 NM_001330195.2
    POGZ 100.00 1 NM_015100.4
    PPP2R5D 100.00 1 NM_006245.4
    PTCHD1 100.00 1 NM_173495.3
    PTEN 100.00 1 NM_000314.8
    RAI1 100.00 1 NM_030665.4
    RIMS1 100.00 1 NM_014989.5
    SCN1A 100.00 1 NM_001165963.3
    SCN2A 100.00 1 NM_001040142.2
    SCN8A 100.00 1 NM_001330260.2
    SHANK1 100.00 1 NM_016148.5
    SHANK2 100.00 1 NM_133266.5
    SHANK3 100.00 1 NM_001372044.1
    SMC1A 100.00 1 NM_006306.4
    SMC3 100.00 1 NM_005445.4
    SYNGAP1 100.00 1 NM_006772.3
    TBL1XR1 100.00 1 NM_024665.7
    TBR1 100.00 1 NM_006593.4
    TCF20 100.00 1 NM_005650.3
    TMLHE 100.00 1 NM_018196.4
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    UBE3A 100.00 1 NM_130839.5
    VPS13B 100.00 1 NM_017890.4
  • Breast/Ovarian cancer (12 genes) - IPG
  • Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 100.00 1 NM_000789.4
    ACTG2 100.00 1 NM_001615.4
    AGT 100.00 1 NM_001384479.1
    AGTR1 100.00 1 NM_000685.5
    ANOS1 100.00 1 NM_000216.4
    BMP4 100.00 1 NM_001202.6
    BMP7 100.00 1 NM_001719.3
    CDC5L 100.00 1 NM_001253.4
    CHD1L 100.00 1 NM_004284.6
    CHD7 100.00 1 NM_017780.4
    DSTYK 100.00 1 NM_015375.3
    EYA1 100.00 1 NM_000503.6
    FGF20 100.00 1 NM_019851.3
    FRAS1 100.00 1 NM_025074.7
    FREM1 100.00 1 NM_001379081.2
    FREM2 100.00 1 NM_207361.6
    GATA3 100.00 1 NM_001002295.2
    GLI3 100.00 1 NM_000168.6
    GREB1L 100.00 1 NM_001142966.3
    GRIP1 100.00 1 NM_001366722.1
    HNF1B 100.00 1 NM_000458.4
    ITGA8 100.00 1 NM_003638.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP3 100.00 1 NM_153240.5
    PAX2 100.00 1 NM_000278.5
    PBX1 100.00 1 NM_002585.4
    REN 100.00 1 NM_000537.4
    RET 100.00 1 NM_020975.6
    ROBO2 100.00 1 NM_001395656.1
    RPGRIP1L 96.00 1 NM_015272.5
    SALL1 100.00 1 NM_002968.3
    SALL4 100.00 1 NM_020436.5
    SIX1 100.00 1 NM_005982.4
    SIX2 100.00 1 NM_016932.5
    SIX5 100.00 1 NM_175875.5
    SOX17 100.00 1 NM_022454.4
    TBX18 100.00 1 NM_001080508.3
    UMOD 100.00 1 NM_003361.4
    UPK3A 100.00 1 NM_006953.4
    WNT4 100.00 1 NM_030761.5
    AGTR2 100.00 1 NM_000686.5
    AGXT 100.00 1 NM_000030.3
    BNC2 100.00 1 NM_017637.6
    CCNQ 100.00 1 NM_152274.5
    CEP55 100.00 1 NM_018131.5
    CHRM3 100.00 1 NM_001375978.1
    CHRNA3 100.00 1 NM_000743.5
    CTU2 100.00 1 NM_001012759.3
    FOXC1 100.00 1 NM_001453.3
    GPC3 100.00 1 NM_004484.4
    HOXA13 100.00 1 NM_000522.5
    HPSE2 100.00 1 NM_021828.5
    JAG1 100.00 1 NM_000214.3
    KIF14 100.00 1 NM_014875.3
    LIFR 100.00 1 NM_001127671.2
    LRIG2 100.00 1 NM_014813.3
    LRP4 100.00 1 NM_002334.4
    NADSYN1 100.00 1 NM_018161.5
    ROBO1 100.00 1 NM_002941.4
    SDCCAG8 100.00 1 NM_006642.5
    SLIT2 100.00 1 NM_004787.4
    STRA6 100.00 1 NM_022369.4
    TBC1D1 100.00 1 NM_001396959.1
    TFAP2A 100.00 1 NM_001372066.1
    TMEM260 100.00 1 NM_017799.4
    TRAP1 100.00 1 NM_016292.3
    WFS1 100.00 1 NM_006005.3
    ZIC3 100.00 1 NM_003413.4
    ZMYM2 100.00 1 NM_197968.4
  • 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
  • Dilated Cardiomyopathy (79 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 1 NM_020297.3
    ACTC1 100.00 1 NM_005159.5
    ACTN2 100.00 1 NM_001103.3
    ANK2 100.00 1 NM_001148.6
    ANKRD1 100.00 1 NM_014391.2
    BAG3 100.00 1 NM_004281.4
    CASQ2 100.00 1 NM_001232.3
    CAV3 100.00 1 NM_033337.3
    CDH2 100.00 1 NM_001792.5
    CRYAB 100.00 1 NM_001289808.2
    CSRP3 100.00 1 NM_003476.5
    CTF1 100.00 1 NM_001330.3
    DES 100.00 1 NM_001927.4
    DMD 100.00 1 NM_004006.2
    DOLK 100.00 1 NM_014908.4
    DSC2 100.00 1 NM_024422.6
    DSG2 100.00 1 NM_001943.5
    DSP 100.00 1 NM_004415.4
    DTNA 100.00 1 NM_001198938.2
    EMD 100.00 1 NM_000117.3
    EYA4 100.00 1 NM_004100.5
    FHL1 100.00 1 NM_001159699.2
    FHL2 100.00 1 NM_201555.2
    FHOD3 100.00 1 NM_001281740.3
    FKRP 100.00 1 NM_024301.5
    FKTN 100.00 1 NM_006731.2
    FLII 100.00 1 NM_002018.4
    FLNC 100.00 1 NM_001458.4
    GATA6 100.00 1 NM_005257.5
    GATAD1 100.00 1 NM_021167.5
    GLA 100.00 1 NM_000169.3
    ILK 100.00 1 NM_004517.4
    JPH2 100.00 1 NM_020433.5
    JUP 100.00 1 NM_002230.4
    LAMA4 100.00 1 NM_001105206.3
    LAMP2 100.00 1 NM_002294.3
    LDB3 100.00 1 NM_001171610.2
    LMNA 100.00 1 NM_170707.4
    MIB1 100.00 1 NM_020774.3
    MYBPC3 100.00 1 NM_000256.3
    MYH6 100.00 1 NM_002471.3
    MYH7 100.00 1 NM_000257.4
    MYL2 100.00 1 NM_000432.4
    MYL3 100.00 1 NM_000258.3
    MYLK2 100.00 1 NM_033118.4
    MYLK3 100.00 1 NM_182493.3
    MYOZ2 100.00 1 NM_016599.5
    MYPN 100.00 1 NM_032578.3
    NEBL 100.00 1 NM_006393.2
    NEXN 100.00 1 NM_144573.3
    NKX2-5 100.00 1 NM_004387.4
    NRAP 100.00 1 NM_198060.4
    OBSCN 100.00 1 NM_001271223.2
    PKP2 100.00 1 NM_001005242.3
    PLEKHM2 100.00 1 NM_015164.4
    PLN 100.00 1 NM_002667.5
    PRDM16 100.00 1 NM_022114.4
    PRKAG2 100.00 1 NM_016203.4
    PSEN2 100.00 1 NM_000447.3
    RAF1 100.00 1 NM_001354689.3
    RBM20 100.00 1 NM_001134363.3
    RPL3L 100.00 1 NM_005061.3
    RYR2 100.00 1 NM_001035.3
    SCN5A 100.00 1 NM_000335.5
    SGCD 100.00 1 XM_017009724.1
    SPEG 100.00 1 NM_005876.5
    TBX20 100.00 1 NM_001077653.2
    TBX5 100.00 1 NM_181486.4
    TCAP 100.00 1 NM_003673.4
    TMEM43 100.00 1 NM_024334.3
    TNNC1 100.00 1 NM_003280.3
    TNNI3 100.00 1 NM_000363.5
    TNNI3K 100.00 1 NM_015978.3
    TNNT2 100.00 1 NM_001276345.2
    TPM1 100.00 1 NM_001018005.2
    TTN 99.52 1 NM_001267550.2
    TTR 100.00 1 NM_000371.4
    VCL 100.00 1 NM_014000.3
    TAFAZZIN 100.00 1 NM_000116.5
  • Ellis-van Creveld (2 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    EVC
    EVC2
  • End-stage renal disease (106 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTN4 100.00 1 NM_004924.6
    AGT 100.00 1 NM_001384479.1
    AGXT 100.00 1 NM_000030.3
    AHI1 100.00 1 NM_001134831.2
    ALMS1 100.00 1 NM_001378454.1
    ANKFY1 100.00 1 NM_001330063.2
    ANLN 100.00 1 NM_018685.5
    APOL1 100.00 1 NM_003661.4
    APRT 100.00 1 NM_000485.3
    ARHGAP24 100.00 1 NM_001025616.3
    ARHGDIA 100.00 1 NM_004309.6
    AVIL 100.00 1 NM_006576.4
    BNC2 100.00 1 NM_017637.6
    BSND 100.00 1 NM_057176.3
    CC2D2A 100.00 1 NM_001378615.1
    CD151 100.00 1 NM_004357.5
    CD2AP 100.00 1 NM_012120.3
    CEP164 100.00 1 NM_014956.5
    CEP290 100.00 1 NM_025114.4
    CEP83 100.00 1 NM_016122.3
    CFHR5 100.00 1 NM_030787.4
    CLCN5 100.00 1 NM_001127898.4
    CLCNKA 100.00 1 NM_004070.4
    CLCNKB 100.00 1 NM_000085.5
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    COL4A6 100.00 1 NM_033641.4
    COQ8B 100.00 1 NM_024876.4
    CPT2 100.00 1 NM_000098.3
    CRB2 100.00 1 NM_173689.7
    CTNS 100.00 1 NM_004937.3
    DCDC2 100.00 1 NM_016356.5
    DGKE 100.00 1 NM_003647.3
    DNAJB11 100.00 1 NM_016306.6
    DSTYK 100.00 1 NM_015375.3
    DZIP1L 100.00 1 NM_173543.3
    EHHADH 100.00 1 NM_001966.4
    EMP2 100.00 1 NM_001424.6
    FAN1 100.00 1 NM_014967.5
    FN1 100.00 1 NM_212482.4
    GANAB 100.00 1 NM_198334.3
    GAPVD1 100.00 1 NM_001282680.3
    GATM 100.00 1 NM_001482.3
    GLIS2 100.00 1 NM_032575.3
    GON7 100.00 1 NM_032490.5
    GSN 100.00 1 NM_198252.3
    HNF1B 100.00 1 NM_000458.4
    IFT140 100.00 1 NM_014714.4
    IFT43 100.00 1 NM_001102564.3
    INF2 100.00 1 NM_022489.4
    INVS 100.00 1 NM_014425.5
    IQCB1 100.00 1 NM_001023570.4
    JAG1 100.00 1 NM_000214.3
    LAGE3 100.00 1 NM_006014.5
    LAMB2 100.00 1 NM_002292.4
    LMX1B 100.00 1 NM_001174147.2
    LZTFL1 100.00 1 NM_020347.4
    MAGI2 100.00 1 NM_012301.4
    MAPKBP1 100.00 1 NM_014994.3
    MEFV 100.00 1 NM_000243.3
    MMUT 100.00 1 NM_000255.4
    MYO1E 100.00 1 NM_004998.4
    MYOCD 100.00 1 NM_001146312.3
    NDUFAF6 100.00 1 NM_152416.4
    NEK8 100.00 1 NM_178170.3
    NOS1AP 100.00 1 NM_014697.3
    NPHP1 100.00 1 NM_001128178.3
    NPHP3 100.00 1 NM_153240.5
    NPHP4 100.00 1 NM_015102.5
    NPHS1 100.00 1 NM_004646.4
    NPHS2 100.00 1 NM_014625.4
    NUP107 100.00 1 NM_020401.4
    NUP133 100.00 1 NM_018230.3
    NUP160 100.00 1 NM_015231.3
    NUP205 100.00 1 NM_015135.3
    NUP85 100.00 1 NM_024844.5
    NUP93 100.00 1 NM_014669.5
    OSGEP 100.00 1 NM_017807.4
    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
    PLCE1 100.00 1 NM_016341.4
    PTPRO 100.00 1 NM_030667.3
    RPGRIP1L 96.00 1 NM_015272.5
    SDCCAG8 100.00 1 NM_006642.5
    SGPL1 100.00 1 NM_003901.4
    SLC34A1 100.00 1 NM_003052.5
    SLC37A4 100.00 1 NM_001164279.2
    SLC41A1 100.00 1 NM_173854.6
    SMARCAL1 100.00 1 NM_014140.4
    TBC1D8B 100.00 1 NM_017752.3
    TMEM231 100.00 1 NM_001077418.3
    TMEM67 100.00 1 NM_153704.6
    TP53RK 100.00 1 NM_033550.4
    TPRKB 100.00 1 NM_016058.5
    TRAF3IP1 100.00 1 NM_015650.4
    TRPC6 100.00 1 NM_004621.6
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TTC21B 100.00 1 NM_024753.5
    WDR19 100.00 1 NM_025132.4
    WT1 100.00 1 NM_024426.6
    XPNPEP3 100.00 1 NM_022098.4
    YRDC 100.00 1 NM_024640.4
  • Epilepsy, seizures (196 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ACTB 100.00 1 NM_001101.5
    ADSL 100.00 1 NM_000026.4
    AKT3 100.00 1 NM_005465.7
    ALDH7A1 100.00 1 NM_001182.5
    ALG13 98.77 1 NM_001099922.3
    ANKRD11 99.99 1 NM_013275.6
    ARHGEF9 100.00 1 NM_001353921.2
    ARID1B 98.38 1 NM_001374828.1
    ARX 96.96 1 NM_139058.3
    ASXL3 100.00 1 NM_030632.3
    ATN1 100.00 1 NM_001940.4
    ATP1A2 100.00 1 NM_000702.4
    ATP1A3 100.00 1 NM_152296.5
    ATP7A 100.00 1 NM_000052.7
    ATRX 100.00 1 NM_000489.5
    ATXN2 100.00 1 NM_001372574.1
    BRAT1 100.00 1 NM_152743.4
    BTD 100.00 1 NM_001370658.1
    CACNA1A 100.00 1 NM_023035.3
    CACNA1D 100.00 1 NM_001128840.3
    CACNA1E 100.00 1 NM_001205293.3
    CACNA2D2 100.00 1 NM_001174051.3
    CAD 100.00 1 NM_004341.5
    CAMK2A 100.00 1 NM_015981.4
    CAMK2B 100.00 1 NM_001220.5
    CASK 100.00 1 NM_003688.3
    CDKL5 100.00 1 NM_001323289.2
    CERT1 100.00 1 NM_001130105.1
    CHD2 100.00 1 NM_001271.4
    CHRNA2 100.00 1 NM_000742.4
    CHRNA4 100.00 1 NM_000744.6
    CHRNB2 100.00 1 NM_000748.3
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLTC 100.00 1 NM_004859.4
    CNTNAP2 100.00 1 NM_014141.6
    COL4A1 100.00 1 NM_001845.6
    CSNK2B 100.00 1 NM_001320.7
    CSTB 100.00 1 NM_000100.4
    CTSA 100.00 1 NM_000308.4
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    CUL4B 100.00 1 NM_001079872.2
    CYFIP2 100.00 1 NM_001037333.3
    DCX 100.00 1 NM_001195553.2
    DDC 100.00 1 NM_001082971.2
    DDX3X 100.00 1 NM_001356.4
    DEAF1 100.00 1 NM_021008.4
    DEPDC5 100.00 1 NM_001242896.3
    DHDDS 100.00 1 NM_205861.3
    DNAJC5 100.00 1 NM_025219.3
    DNM1 100.00 1 NM_004408.4
    DOCK7 100.00 1 NM_001367561.1
    DYNC1H1 100.00 1 NM_001376.5
    DYRK1A 100.00 1 NM_001347721.2
    EEF1A2 100.00 1 NM_001958.5
    EHMT1 100.00 1 NM_024757.5
    EPM2A 100.00 1 NM_005670.4
    FGF12 100.00 1 NM_021032.4
    FLNA 100.00 1 NM_001110556.2
    FMR1 100.00 1 NM_002024.6
    FOLR1 100.00 1 NM_016729.3
    FOXG1 99.86 1 NM_005249.5
    FOXP1 100.00 1 NM_032682.6
    GABBR2 100.00 1 NM_005458.8
    GABRA1 100.00 1 NM_001127644.2
    GABRA2 100.00 1 NM_001330690.1
    GABRA3 100.00 1 NM_000808.4
    GABRA5 100.00 1 NM_000810.4
    GABRB1 100.00 1 NM_000812.4
    GABRB2 100.00 1 NM_001371727.1
    GABRB3 100.00 1 NM_000814.6
    GABRD 100.00 1 NM_000815.5
    GABRG2 92.05 1 NM_198903.2
    GAD1 100.00 1 NM_000817.3
    GAD2 100.00 1 NM_001134366.2
    GAMT 100.00 1 NM_000156.6
    GATM 100.00 1 NM_001482.3
    GBA1 98.97 1 NM_000157.4
    GLDC 100.00 1 NM_000170.3
    GLI3 100.00 1 NM_000168.6
    GNAO1 100.00 1 NM_020988.3
    GNB1 100.00 1 NM_002074.5
    GOSR2 100.00 1 NM_004287.5
    GPAA1 100.00 1 NM_003801.4
    GRIA3 100.00 1 NM_007325.5
    GRIN1 100.00 1 NM_007327.4
    GRIN2A 100.00 1 NM_001134407.3
    GRIN2B 100.00 1 XM_011520629.2
    GRIN2D 100.00 1 NM_000836.2
    H3-3A 100.00 1 NM_002107.7
    H3-3B 100.00 1 NM_005324.5
    HECW2 100.00 1 NM_001348768.2
    HIVEP2 100.00 1 NM_006734.4
    HLCS 100.00 1 NM_000411.8
    HNRNPU 100.00 1 NM_031844.3
    HUWE1 100.00 1 NM_031407.7
    IQSEC2 99.37 1 NM_001111125.3
    JMJD1C 100.00 1 NM_032776.3
    KANSL1 100.00 1 NM_001193466.2
    KCNA1 100.00 1 NM_000217.3
    KCNA2 100.00 1 NM_004974.4
    KCNB1 100.00 1 NM_004975.4
    KCNC1 100.00 1 NM_001112741.2
    KCNH1 100.00 1 NM_172362.3
    KCNJ10 100.00 1 NM_002241.5
    KCNK4 100.00 1 NM_033310.3
    KCNQ2 100.00 1 NM_172107.4
    KCNQ3 100.00 1 NM_004519.4
    KCNT1 100.00 1 NM_020822.3
    KCNT2 100.00 1 NM_198503.5
    KCTD7 100.00 1 NM_153033.4
    KDM5C 100.00 1 NM_004187.5
    KDM6A 100.00 1 NM_001291415.2
    KIF1A 100.00 1 NM_001244008.1
    KMT2D 100.00 1 NM_003482.3
    KMT2E 100.00 1 NM_182931.3
    KPTN 100.00 1 NM_007059.4
    LGI1 100.00 1 NM_005097.4
    LRP1 100.00 1 NM_002332.3
    MAGI2 100.00 1 NM_012301.4
    MBD5 100.00 1 NM_018328.4
    MECP2 100.00 1 NM_001110792.2+NM_004992.3
    MED12 100.00 1 NM_005120.3
    MED13L 100.00 1 NM_015335.4
    MEF2C 100.00 1 NM_002397.5
    MFSD8 100.00 1 NM_001371596.2
    MICAL1 100.00 1 NM_022765.4
    MID1 100.00 1 NM_000381.4
    MOCS1 100.00 1 NM_001358530.2
    MTHFR 100.00 1 NM_005957.5
    MTOR 100.00 1 NM_004958.4
    NEDD4L 100.00 1 NM_001144967.3
    NEU1 100.00 1 NM_000434.4
    NEXMIF 100.00 1 NM_001008537.3
    NF1 100.00 1 NM_001042492.3
    NFIA 99.78 1 NM_001134673.4
    NHLRC1 100.00 1 NM_198586.3
    NLGN3 100.00 1 NM_181303.2
    NPRL2 100.00 1 NM_006545.5
    NPRL3 100.00 1 NM_001077350.3
    NRXN1 100.00 1 NM_001330078.2
    NTRK2 100.00 1 XM_017014751.2
    NUS1 100.00 1 NM_138459.5
    OPHN1 100.00 1 NM_002547.3
    PACS1 100.00 1 NM_018026.4
    PACS2 100.00 1 NM_001100913.3
    PAFAH1B1 100.00 1 NM_000430.4
    PANK2 100.00 1 NM_153638.3
    PCDH19 100.00 1 NM_001184880.2
    PHGDH 100.00 1 NM_006623.4
    PIGA 100.00 1 NM_002641.3
    PIGO 100.00 1 NM_032634.4
    PIGQ 100.00 1 NM_004204.5
    PIGS 100.00 1 NM_033198.4
    PIGT 100.00 1 NM_015937.6
    PIGU 100.00 1 NM_080476.4
    PIGV 100.00 1 NM_017837.4
    PIK3CA 100.00 1 NM_006218.4
    PIK3R2 100.00 1 NM_005027.4
    PLCB1 100.00 1 NM_015192.4
    PLPBP 100.00 1 NM_007198.4
    PLXNA1 100.00 1 NM_032242.3
    PNKP 100.00 1 NM_007254.4
    PNPO 100.00 1 NM_018129.4
    POLG 100.00 1 NM_001126131.2
    PPP2R1A 100.00 1 NM_014225.6
    PPP2R5D 100.00 1 NM_006245.4
    PPT1 100.00 1 NM_000310.4
    PRICKLE1 100.00 1 NM_153026.3
    PRIMA1 100.00 1 NM_178013.4
    PRRT2 100.00 1 NM_145239.3
    PSAT1 100.00 1 NM_058179.4
    PTEN 100.00 1 NM_000314.8
    PURA 100.00 1 NM_005859.5
    QARS1 100.00 1 NM_005051.3
    RELN 100.00 1 NM_005045.4
    RLIM 100.00 1 NM_016120.4
    SCAF4 100.00 1 NM_020706.2
    SCARB2 100.00 1 NM_005506.4
    SCN1A 100.00 1 NM_001165963.3
    SCN1B 100.00 1 NM_001037.5+NM_199037.5
    SCN2A 100.00 1 NM_001040142.2
    SCN3A 100.00 1 NM_006922.4
    SCN8A 100.00 1 NM_001330260.2
    SCN9A 100.00 1 NM_001365536.1
    SERPINI1 100.00 1 NM_001122752.1
    SETBP1 99.99 1 NM_015559.3
    SETD5 100.00 1 NM_001080517.3
    SLC12A5 100.00 1 NM_020708.5
    SLC19A3 100.00 1 NM_025243.4
    SLC1A2 100.00 1 NM_004171.4
    SLC25A22 100.00 1 NM_001191061.2
    SLC2A1 100.00 1 NM_006516.3
    SLC35A2 100.00 1 NM_005660.3
    SLC6A1 100.00 1 NM_003042.4
    SLC6A11 100.00 1 NM_014229.3
    SLC6A8 100.00 1 NM_005629.4
    SLC9A6 100.00 1 NM_001042537.1
    SMARCA2 100.00 1 NM_003070.5
    SMC1A 100.00 1 NM_006306.4
    SMS 100.00 1 NM_004595.5
    SNAP25 100.00 1 NM_130811.4
    SPTAN1 100.00 1 NM_001130438.3
    ST3GAL3 100.00 1 NM_006279.5
    STX1B 100.00 1 NM_052874.5
    STXBP1 100.00 1 NM_001032221.6
    SYN1 100.00 1 NM_006950.3
    SYNGAP1 100.00 1 NM_006772.3
    SZT2 100.00 1 NM_001365999.1
    TBC1D24 100.00 1 NM_001199107.2
    TBL1XR1 100.00 1 NM_024665.7
    TCF4 100.00 1 NM_001083962.2
    TNK2 100.00 1 XM_005269270.3
    TPP1 100.00 1 NM_000391.4
    TRPM6 100.00 1 NM_017662.5
    TRRAP 100.00 1 NM_001244580.1
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TUBA1A 100.00 1 NM_006009.4
    TWNK 100.00 1 NM_021830.5
    UBE3A 100.00 1 NM_130839.5
    UGP2 100.00 1 NM_006759.3
    WASF1 100.00 1 NM_003931.3
    WDR45 100.00 1 NM_001029896.2
    WWOX 100.00 1 NM_016373.4
    ZEB2 100.00 1 NM_014795.4
  • Familial Hypercholesterolemia (9 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APOB 100.00 1 NM_000384.3
    APOE 100.00 1 NM_000041.4
    LDLR 100.00 1 NM_000527.5
    LDLRAP1 100.00 1 NM_015627.3
    PCSK9 100.00 1 NM_174936.4
    ABCG5 100.00 1 NM_022436.3
    ABCG8 100.00 1 NM_022437.3
    LIPA 100.00 1 NM_000235.4
    STAP1 100.00 1 NM_012108.4
  • Hereditary predisposition to cancer (47 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 NM_000038.6
    ATM 100.00 1 NM_000051.3
    BAP1 100.00 1 NM_004656.4
    BARD1 100.00 1 NM_000465.4
    BMPR1A 100.00 1 NM_004329.3
    BRCA1 100.00 1 NM_007294.4
    BRCA2 100.00 1 NM_000059.3
    BRIP1 100.00 1 NM_032043.3
    CDH1 100.00 1 NM_004360.5
    CDKN1B 100.00 1 NM_004064.4
    CDKN2A 100.00 1 NM_001195132.1
    CHEK2 100.00 1 NM_007194.4
    EPCAM 100.00 1 NM_002354.3
    GATA2 100.00 1 NM_032638.5
    GREM1 100.00 1 NM_013372.7
    MEN1 100.00 1 NM_001370259.2
    MLH1 100.00 1 NM_000249.4
    MSH2 100.00 1 NM_000251.3
    MSH3 100.00 1 NM_002439.5
    MSH6 100.00 1 NM_000179.3
    MUTYH 100.00 1 NM_001128425.2
    NBN 100.00 1 NM_002485.5
    NTHL1 100.00 1 NM_002528.7
    PALB2 100.00 1 NM_024675.4
    PIK3CA 100.00 1 NM_006218.4
    PMS2 100.00 1 NM_000535.7
    POLD1 100.00 1 NM_002691.4
    POLE 100.00 1 NM_006231.4
    PTEN 100.00 1 NM_000314.8
    RAD50 100.00 1 NM_005732.4
    RAD51C 100.00 1 NM_058216.3
    RAD51D 100.00 1 NM_002878.3
    RPS20 100.00 1 NM_001146227.2
    SCG5 100.00 1 NM_001144757.2
    SMAD4 100.00 1 NM_005359.6
    STK11 100.00 1 NM_000455.5
    TP53 100.00 1 NM_000546.5
    WWP1 100.00 1 NM_007013.4
    AXIN2 100.00 1 NM_004655.4
    CDK4 100.00 1 NM_000075.4
    DICER1 100.00 1 NM_030621.4
    HOXB13 100.00 1 NM_006361.6
    NF1 100.00 1 NM_001042492.3
    POT1 100.00 1 NM_015450.3
    PTCH1 100.00 1 NM_000264.5
    RB1 100.00 1 NM_000321.2
    RET 100.00 1 NM_020975.6
  • Hyperekplexia (6 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ARHGEF9 100.00 1 NM_001353921.2
    ATAD1 100.00 1 NM_001321967.1
    GLRA1 100.00 1 NM_000171.4
    GLRB 100.00 1 NM_000824.5
    GPHN 100.00 1 NM_020806.4
    SLC6A5 100.00 1 NM_004211.5
  • Hypertrophic cardiomyopathy (75 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTC1 100.00 1 NM_005159.5
    ACTN2 100.00 1 NM_001103.3
    ALPK3 100.00 1 NM_020778.5
    CSRP3 100.00 1 NM_003476.5
    GLA 100.00 1 NM_000169.3
    JPH2 100.00 1 NM_020433.5
    LAMP2 100.00 1 NM_002294.3
    LMNA 100.00 1 NM_170707.4
    MYBPC3 100.00 1 NM_000256.3
    MYH6 100.00 1 NM_002471.3
    MYH7 100.00 1 NM_000257.4
    MYL2 100.00 1 NM_000432.4
    MYL3 100.00 1 NM_000258.3
    PLN 100.00 1 NM_002667.5
    PRKAG2 100.00 1 NM_016203.4
    TNNC1 100.00 1 NM_003280.3
    TNNI3 100.00 1 NM_000363.5
    TNNT2 100.00 1 NM_001276345.2
    TPM1 100.00 1 NM_001018005.2
    TTR 100.00 1 NM_000371.4
    ACADVL 100.00 1 NM_000018.4
    ACTA1 100.00 1 NM_001100.4
    AGL 100.00 1 NM_000642.3
    ANKRD1 100.00 1 NM_014391.2
    ATAD3A 100.00 1 NM_001170535.3
    ATP5F1E 100.00 1 NM_006886.4
    BRAF 100.00 1 NM_001354609.2
    CACNA1C 100.00 1 NM_000719.7
    CALR3 100.00 1 NM_145046.5
    CASQ2 100.00 1 NM_001232.3
    CAV3 100.00 1 NM_033337.3
    COA5 100.00 1 NM_001008215.3
    CRYAB 100.00 1 NM_001289808.2
    DES 100.00 1 NM_001927.4
    FHL1 100.00 1 NM_001159699.2
    FHOD3 100.00 1 NM_001281740.3
    FLNC 100.00 1 NM_001458.4
    FOXRED1 100.00 1 NM_017547.4
    FXN 100.00 1 NM_000144.5
    GAA 100.00 1 NM_000152.5
    GLB1 100.00 1 NM_000404.4
    GUSB 100.00 1 NM_000181.4
    GYG1 100.00 1 NM_004130.4
    HRAS 100.00 1 NM_005343.4
    KCNQ1 100.00 1 NM_000218.3
    KLF10 100.00 1 NM_005655.4
    LDB3 100.00 1 NM_001171610.2
    LZTR1 100.00 1 NM_006767.4
    MAP2K1 100.00 1 NM_002755.4
    MAP2K2 100.00 1 NM_030662.4
    MIB1 100.00 1 NM_020774.3
    MRPL3 100.00 1 NM_007208.4
    MT-TI 100.00 1
    MT-TL1 100.00 1
    MYLK2 100.00 1 NM_033118.4
    MYO6 100.00 1 NM_004999.4
    MYOM1 100.00 1 NM_003803.4
    MYOZ2 100.00 1 NM_016599.5
    MYPN 100.00 1 NM_032578.3
    NEXN 100.00 1 NM_144573.3
    NRAS 100.00 1 NM_002524.5
    PDLIM3 100.00 1 NM_014476.6
    PTPN11 100.00 1 NM_002834.5
    RAF1 100.00 1 NM_001354689.3
    RYR2 100.00 1 NM_001035.3
    SCO2 100.00 1 NM_005138.3
    SLC25A3 100.00 1 NM_002635.4
    SLC25A4 100.00 1 NM_001151.4
    SOS1 100.00 1 NM_005633.3
    TCAP 100.00 1 NM_003673.4
    TMEM70 100.00 1 NM_017866.6
    TRIM63 100.00 1 NM_032588.3
    TSFM 100.00 1 NM_005726.6
    TTN 100.00 1 NM_001267550.2
    VCL 100.00 1 NM_014000.3
  • Inherited cardiac arrhytmia (25 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AKAP9 100.00 1 NM_005751.4
    ANK2 100.00 1 NM_001148.6
    CACNA1C 100.00 1 NM_000719.7
    CALM1 100.00 1 NM_006888.6
    CALM2 100.00 1 NM_001743.6
    CASQ2 100.00 1 NM_001232.3
    CAV3 100.00 1 NM_033337.3
    KCNE1 100.00 1 NM_000219.6
    KCNE2 100.00 1 NM_172201.1
    KCNH2 100.00 1 NM_000238.4
    KCNJ2 100.00 1 NM_000891.3
    KCNJ5 100.00 1 NM_000890.5
    KCNQ1 100.00 1 NM_000218.3
    RYR2 100.00 1 NM_001035.3
    SCN4B 100.00 1 NM_174934.3
    SCN5A 100.00 1 NM_000335.5
    SNTA1 100.00 1 NM_003098.3
    TRDN 100.00 1 NM_006073.4
    ABCC9 100.00 1 NM_020297.3
    ALG10B 100.00 1 NM_001013620.4
    CACNA2D1 100.00 1 NM_000722.4
    CACNB2 100.00 1 NM_201596.3
    CALM3 100.00 1 NM_005184.4
    SLC4A3 100.00 1 NM_005070.4
    TECRL 100.00 1 NM_001010874.5
  • Intellectual Disability (104 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADNP 100.00 1 NM_001282531.3
    ANKRD11 100.00 1 NM_013275.6
    ARHGEF9 100.00 1 NM_001353921.2
    ARID1A 100.00 1 NM_006015.6
    ARID1B 98.83 1 NM_001374828.1
    ARX 100.00 1 NM_139058.3
    ASXL3 100.00 1 NM_030632.3
    ATRX 100.00 1 NM_000489.5
    BCL11A 100.00 1 NM_022893.4
    BRAF 100.00 1 NM_001354609.2
    BRWD3 100.00 1 NM_153252.5
    CAMK2G 100.00 1 NM_172171.2
    CAMTA1 100.00 1 NM_015215.4
    CASK 100.00 1 NM_003688.3
    CBL 100.00 1 NM_005188.4
    CDKL5 100.00 1 NM_001323289.2
    CERT1 100.00 1 NM_001130105.1
    CHAMP1 100.00 1 NM_032436.4
    CHD2 100.00 1 NM_001271.4
    CNOT3 100.00 1 NM_014516.4
    CREBBP 100.00 1 NM_004380.3
    CTNNB1 100.00 1 NM_001904.4
    CTSA 100.00 1 NM_000308.4
    DDX3X 100.00 1 NM_001356.4
    DHCR7 100.00 1 NM_001360.3
    DNM1 100.00 1 NM_004408.4
    DYRK1A 100.00 1 NM_001347721.2
    EHMT1 100.00 1 NM_024757.5
    EP300 100.00 1 NM_001429.4
    EZH2 100.00 1 NM_004456.5
    FGD1 100.00 1 NM_004463.3
    FGFR3 100.00 1 NM_001163213.1
    FMR1 100.00 1 NM_002024.6
    FOXG1 100.00 1 NM_005249.5
    FOXP1 100.00 1 NM_032682.6
    GLI3 100.00 1 NM_000168.6
    GNAO1 100.00 1 NM_020988.3
    HACE1 100.00 1 NM_020771.4
    HIVEP2 100.00 1 NM_006734.4
    HNRNPK 100.00 1 NM_031263.4
    HNRNPU 100.00 1 NM_031844.3
    HPRT1 100.00 1 NM_000194.3
    HRAS 100.00 1 NM_005343.4
    HUWE1 100.00 1 NM_031407.7
    IQSEC2 100.00 1 NM_001111125.3
    ITPR1 100.00 1 NM_001168272.1
    KANSL1 100.00 1 NM_001193466.2
    KAT6A 100.00 1 NM_006766.5
    KCNH1 100.00 1 NM_172362.3
    KCNQ2 100.00 1 NM_172107.4
    KDM6A 100.00 1 NM_001291415.2
    KIF1A 100.00 1 NM_001244008.1
    KMT2A 100.00 1 NM_001197104.2
    KPTN 100.00 1 NM_007059.4
    KRAS 100.00 1 NM_033360.4
    LRP1 100.00 1 NM_002332.3
    MECP2 100.00 1 NM_001110792.2 et NM_004992.3
    MED12 100.00 1 NM_005120.3
    MED13L 100.00 1 NM_015335.4
    MID1 100.00 1 NM_000381.4
    MTOR 100.00 1 NM_004958.4
    NAA10 100.00 1 NM_003491.4
    NALCN 100.00 1 NM_052867.4
    NEXMIF 100.00 1 NM_001008537.3
    NF1 100.00 1 NM_001042492.3
    NFIX 100.00 1 NM_002501.4
    NIPBL 100.00 1 NM_133433.4
    NLGN1 100.00 1 NM_014932.5
    NLGN3 100.00 1 NM_181303.2
    NLGN4X 100.00 1 NM_181332.3
    NSD1 100.00 1 NM_022455.4
    PACS1 100.00 1 NM_018026.4
    PCGF2 100.00 1 NM_007144.3
    PIGT 100.00 1 NM_015937.6
    POU1F1 100.00 1 NM_000306.4
    PPP2R1A 100.00 1 NM_014225.6
    PPP2R5D 100.00 1 NM_006245.4
    PTCHD1 100.00 1 NM_173495.3
    PURA 100.00 1 NM_005859.5
    RAI1 100.00 1 NM_030665.4
    SATB2 100.00 1 NM_001172509.2
    SCN1A 100.00 1 NM_001165963.3
    SCN2A 100.00 1 NM_001040142.2
    SCN8A 100.00 1 NM_001330260.2
    SETBP1 100.00 1 NM_015559.3
    SETD5 100.00 1 NM_001080517.3
    SHANK1 100.00 1 NM_016148.5
    SHANK2 100.00 1 NM_133266.5
    SLC2A1 100.00 1 NM_006516.3
    SLC9A6 100.00 1 NM_001042537.1
    SMARCA2 100.00 1 NM_003070.5
    SMC1A 100.00 1 NM_006306.4
    SMC3 100.00 1 NM_005445.4
    SMS 100.00 1 NM_004595.5
    SOX3 100.00 1 NM_005634.2
    STXBP1 100.00 1 NM_001032221.6
    SYNGAP1 100.00 1 NM_006772.3
    TBR1 100.00 1 NM_006593.4
    TCF4 100.00 1 NM_001083962.2
    TUBB3 100.00 1 NM_006086.4
    UBE3A 100.00 1 NM_130839.5
    USP9X 100.00 1 NM_001039591.3
    VPS13B 100.00 1 NM_017890.4
    WDR45 100.00 1 NM_001029896.2
  • Kabuki (7 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    KMT2D 100.00 1
    KDM6A 100.00 1
    KMT2A 100.00 1
    HNRNPK 100.00 1
    RAP1A 100.00 1
    RAP1B 100.00 1
    PACS1 10.00 0 EXON 4
  • Lipodystrophy (2 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AGPAT2
    BSCL2
  • Lipodystrophy and/or hyperinsulinism (30 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC8 100.00 1 NM_000352.6
    AGPAT2 100.00 1 NM_006412.4
    AKT2 100.00 1 NM_001626.6
    ALMS1 100.00 1 NM_001378454.1
    BLM 100.00 1 NM_000057.4
    BSCL2 100.00 1 NM_001122955.4
    CAV1 100.00 1 NM_001753.5
    CAVIN1 100.00 1 NM_012232.6
    CIDEC 100.00 1 NM_001321142.2
    GCK 100.00 1 NM_000162.5
    GLUD1 100.00 1 NM_005271.5
    HADH 100.00 1 NM_005327.7
    INSR 100.00 1 NM_000208.4
    KCNJ11 100.00 1 NM_000525.4
    LIPE 100.00 1 NM_005357.4
    LMNA 100.00 1 NM_170707.4
    PCNT 100.00 1 NM_006031.6
    PCYT1A 100.00 1 NM_001312673.2
    PIK3R1 100.00 1 NM_181523.3
    POLD1 100.00 1 NM_002691.4
    PPARG 100.00 1 NM_138711.6
    SLC16A1 100.00 1 NM_003051.4
    WRN 100.00 1 NM_000553.6
    ZMPSTE24 100.00 1 NM_005857.5
    HNF1A 100.00 1 NM_000545.8
    HNF4A 100.00 1 NM_175914.5
    MAFA 100.00 1 NM_201589.4
    PLAAT3 100.00 1 NM_001128203.2
    PPP1R3A 100.00 1 NM_002711.4
    UCP2 100.00 1 NM_003355.3
  • MODY - Maturity onset Diabete of the Young (21 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC8 100.00 1 no
    GCK 100.00 1 no
    HNF1A 100.00 1 no
    HNF1B 100.00 1 no
    HNF4A 100.00 1 no
    INS 100.00 1 no
    KCNJ11 100.00 1 no
    APPL1 100.00 1 no
    BLK 100.00 1 no
    CEL 100.00 1 no
    GLUD1 100.00 1 no
    HADH 100.00 1 no
    KLF11 100.00 1 no
    INSR 100.00 1 no
    NEUROD1 100.00 1 no
    PAX4 100.00 1 no
    PDHX 100.00 1 no
    SLC16A1 100.00 1 no
    SLC16A12 100.00 1 no
    SLC5A2 100.00 1 no
    ZFP57 100.00 1 no
  • Myopathy (332 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ABHD5 100.00 1 NM_016006.6
    ACAD9 100.00 1 NM_014049.5
    ACADM 100.00 1 NM_000016.6
    ACADVL 100.00 1 NM_000018.4
    ACTA1 100.00 1 NM_001100.4
    ACVR1 100.00 1 NM_001111067.4
    ADSS1 100.00 1 NM_199165.2
    AGK 100.00 1 NM_018238.4
    AGL 100.00 1 NM_000642.3
    AGRN 100.00 1 NM_198576.4
    AIFM1 100.00 1 NM_004208.4
    ALDOA 100.00 1 NM_184041.4
    ALG13 98.00 1 NM_001099922.3
    ALG14 100.00 1 NM_144988.4
    ALG2 100.00 1 NM_033087.4
    ALS2 100.00 1 NM_020919.4
    AMPD1 100.00 1 NM_000036.2
    ANG 100.00 1 NM_001145.4
    ANO5 100.00 1 NM_213599.3
    AR 100.00 1 NM_000044.6
    ASAH1 100.00 1 NM_177924.5
    ASCC1 100.00 1 NM_001198800.3
    ATP2A1 100.00 1 NM_004320.6
    ATP7A 100.00 1 NM_000052.7
    ATXN2 100.00 1 NM_001372574.1
    B3GALNT2 100.00 1 NM_152490.5
    B4GAT1 100.00 1 NM_006876.3
    BAG3 100.00 1 NM_004281.4
    BCS1L 100.00 1 NM_001079866.2
    BICD2 100.00 1 NM_001003800.2
    BIN1 100.00 1 NM_139343.3
    BSCL2 100.00 1 NM_001122955.3
    BVES 100.00 1 NM_001199563.2
    C1QBP 100.00 1 NM_001212.4
    C9ORF72 100.00 0 NM_018325.5
    CACNA1A 100.00 1 NM_023035.3
    CACNA1S 100.00 1 NM_000069.3
    CAPN3 100.00 1 NM_000070.3
    CASQ1 100.00 1 NM_001231.5
    CAV3 100.00 1 NM_033337.3
    CAVIN1 100.00 1 NM_012232.6
    CCDC78 100.00 1 NM_001031737.3
    CFL2 100.00 1 NM_138638.5
    CHAT 100.00 1 NM_020549.4
    CHCHD10 100.00 1 NM_213720.3
    CHKB 100.00 1 NM_005198.5
    CHMP2B 100.00 1 NM_014043.4
    CHRNA1 100.00 1 NM_000079.4
    CHRNB1 100.00 1 NM_000747.3
    CHRND 100.00 1 NM_000751.3
    CHRNE 100.00 1 NM_000080.4
    CHRNG 100.00 1 NM_005199.5
    CHST14 100.00 1 NM_130468.4
    CLCN1 100.00 1 NM_000083.3
    CLN3 100.00 1 NM_001042432.2
    CNBP 100.00 1 NM_003418.5
    CNTN1 100.00 1 NM_001843.4
    COL12A1 100.00 1 NM_004370.6
    COL13A1 100.00 1 NM_001130103.2
    COL6A1 100.00 1 NM_001848.3
    COL6A2 100.00 1 NM_001849.4
    COL6A3 100.00 1 NM_004369.4
    COLQ 100.00 1 NM_005677.4
    COQ9 100.00 1 NM_020312.4
    COX10 100.00 1 NM_001303.4
    COX15 100.00 1 NM_078470.6
    COX20 100.00 1 NM_198076.6
    COX6B1 100.00 1 NM_001863.5
    COX8A 100.00 1 NM_004074.3
    CPT2 100.00 1 NM_000098.3
    CRPPA 100.00 1 NM_001101426.4
    CRYAB 100.00 1 NM_001289808.2
    DAG1 100.00 1 NM_001177634.2
    DCTN1 100.00 1 NM_004082.4
    DES 100.00 1 NM_001927.4
    DGUOK 100.00 1 NM_080916.3
    DMD 100.00 1 NM_004006.2
    DMPK 100.00 1 NM_004409.5
    DNA2 100.00 1 NM_001080449.3
    DNAJB2 100.00 1 NM_006736.6
    DNAJB6 100.00 1 NM_058246.4
    DNM2 100.00 1 NM_001005361.3
    DNMT3B 100.00 1 NM_006892.4
    DOK7 100.00 1 NM_173660.5
    DPAGT1 100.00 1 NM_001382.4
    DPM1 99.00 1 NM_001317035.1
    DPM2 100.00 1 NM_003863.4
    DPM3 100.00 1 NM_153741.2
    DYNC1H1 100.00 1 NM_001376.5
    DYSF 100.00 1 NM_001130987.2
    ECEL1 100.00 1 NM_004826.4
    EMD 100.00 1 NM_000117.3
    ENO3 100.00 1 NM_053013.4
    ERBB3 100.00 1 NM_001982.4
    ERBB4 100.00 1 NM_005235.3
    ETFA 100.00 1 NM_000126.4
    ETFB 100.00 1 NM_001985.3
    ETFDH 100.00 1 NM_004453.4
    EXOSC3 100.00 1 NM_016042.4
    EXOSC8 100.00 1 NM_181503.3
    FASTKD2 100.00 1 NM_001136193.2
    FBN2 100.00 1 NM_001999.4
    FBXL4 100.00 1 NM_001278716.2
    FBXO38 100.00 1 NM_205836.3
    FDX2 100.00 1 NM_001031734.4
    FHL1 100.00 1 NM_001159699.2
    FIG4 100.00 1 NM_014845.6
    FKRP 100.00 1 NM_024301.5
    FKTN 100.00 1 NM_006731.2
    FLAD1 100.00 1 NM_025207.5
    FLNC 100.00 1 NM_001458.4
    FOXRED1 100.00 1 NM_017547.4
    FUS 100.00 1 NM_004960.4
    FXR1 100.00 1 NM_005087.4
    GAA 100.00 1 NM_000152.5
    GABRA3 100.00 1 NM_000808.4
    GARS1 100.00 1 NM_002047.4
    GBE1 100.00 1 NM_000158.4
    GFER 100.00 1 NM_005262.3
    GFPT1 100.00 1 NM_001244710.2
    GLE1 100.00 1 NM_001003722.2
    GLI3 100.00 1 NM_000168.6
    GMPPB 100.00 1 NM_021971.4
    GNE 100.00 1 NM_005476.7
    GOLGA2 100.00 1 XM_005251932.1
    GYG1 100.00 1 NM_004130.4
    GYS1 100.00 1 NM_002103.5
    HACD1 100.00 1 NM_014241.4
    HADHA 100.00 1 NM_000182.5
    HADHB 100.00 1 NM_000183.3
    HEXB 100.00 1 NM_000521.4
    HNRNPA1 100.00 1 NM_031157.4
    HNRNPA2B1 100.00 1 NM_031243.3
    HNRNPDL 100.00 1 NM_031372.3
    HRAS 100.00 1 NM_005343.4
    HSPB3 100.00 1 NM_006308.3
    HSPB8 100.00 1 NM_014365.3
    HSPG2 100.00 1 NM_005529.7
    IBA57 100.00 1 NM_001010867.4
    IGHMBP2 100.00 1 NM_002180.3
    INPP5K 100.00 1 NM_016532.4
    ISCU 100.00 1 NM_213595.3
    ITGA7 100.00 1 NM_002206.3
    KBTBD13 100.00 1 NM_001101362.2
    KCNA1 100.00 1 NM_000217.3
    KCNH2 100.00 1 NM_000238.4
    KCNJ18 100.00 1 NM_001194958.2
    KCNJ2 100.00 1 NM_000891.3
    KCNQ1 100.00 1 NM_000218.3
    KIF5A 100.00 1 NM_004984.4
    KLHL40 100.00 1 NM_152393.4
    KLHL41 100.00 1 NM_006063.3
    KLHL9 100.00 1 NM_018847.4
    KY 100.00 1 NM_178554.6
    LAMA2 100.00 1 NM_000426.3
    LAMA5 100.00 1 NM_005560.6
    LAMB2 100.00 1 NM_002292.4
    LAMP2 100.00 1 NM_002294.3
    LARGE1 100.00 1 NM_004737.6
    LDB3 98.00 1 NM_001171610.2
    LDHA 100.00 1 NM_005566.4
    LGI4 100.00 1 NM_139284.3
    LIMS2 100.00 1 NM_017980.4
    LMNA 100.00 1 NM_170707.4
    LMOD3 100.00 1 NM_198271.5
    LPIN1 100.00 1 NM_001349206.2
    LRP4 100.00 1 NM_002334.4
    LRPPRC 100.00 1 NM_133259.4
    MAP3K20 100.00 1 NM_016653.3
    MATR3 100.00 1 NM_018834.6
    MCCC1 100.00 1 NM_020166.5
    MCCC2 100.00 1 NM_022132.5
    MEGF10 100.00 1 NM_001256545.2
    MGME1 100.00 1 NM_052865.4
    MPV17 100.00 1 NM_002437.5
    MSTN 100.00 1 NM_005259.3
    MTM1 100.00 1 NM_000252.3
    MTMR14 100.00 1 NM_001077525.3
    MUSK 100.00 1 NM_005592.4
    MYBPC1 100.00 1 NM_002465.4
    MYBPC3 100.00 1 NM_000256.3
    MYH2 100.00 1 NM_017534.6
    MYH3 100.00 1 NM_002470.4
    MYH7 100.00 1 NM_000257.4
    MYH8 100.00 1 NM_002472.3
    MYL1 100.00 1 NM_079420.3
    MYMK 100.00 1 NM_001080483.3
    MYO18B 100.00 1 NM_032608.7
    MYO9A 100.00 1 NM_006901.4
    MYOT 100.00 1 NM_006790.3
    MYPN 100.00 1 NM_032578.3
    NDUFA1 100.00 1 NM_004541.4
    NDUFA10 100.00 1 NM_004544.4
    NDUFA11 100.00 1 NM_175614.5
    NDUFA12 100.00 1 NM_018838.5
    NDUFA2 100.00 1 NM_002488.5
    NDUFA3 100.00 1 NM_004542.4
    NDUFA9 100.00 1 NM_005002.5
    NDUFAF1 100.00 1 NM_016013.4
    NDUFAF2 100.00 1 NM_174889.5
    NDUFAF5 100.00 1 NM_024120.5
    NDUFAF6 100.00 1 NM_152416.4
    NDUFS1 100.00 1 NM_005006.7
    NDUFS2 100.00 1 NM_004550.4
    NDUFS3 100.00 1 NM_004551.3
    NDUFS4 100.00 1 NM_002495.4
    NDUFS7 100.00 1 NM_024407.5
    NDUFS8 100.00 1 NM_002496.4
    NDUFV1 100.00 1 NM_007103.4
    NDUFV2 100.00 1 NM_021074.5
    NEB 88.00 1 NM_001271208.2
    NEFH 100.00 1 NM_021076.4
    NUBPL 100.00 1 NM_025152.3
    OPTN 100.00 1 NM_001008212.2
    ORAI1 100.00 1 NM_032790.3
    PABPN1 100.00 1 NM_004643.3
    PET100 100.00 1 NM_001171155.2
    PFKM 100.00 1 NM_000289.6
    PFN1 100.00 1 NM_005022.4
    PGAM2 100.00 1 NM_000290.4
    PGK1 100.00 1 NM_000291.4
    PGM1 100.00 1 NM_002633.3
    PHKA1 100.00 1 NM_002637.4
    PHKB 100.00 1 NM_000293.3
    PHKG1 100.00 1 NM_001258459.1
    PIEZO2 100.00 1 NM_022068.3
    PIP5K1C 100.00 1 NM_012398.3
    PLEC 100.00 1 NM_201380.4
    PLEKHG5 100.00 1 NM_001265592.1
    PNPLA2 100.00 1 NM_020376.4
    PNPLA8 100.00 1 NM_001256007.3
    POGLUT1 100.00 1 NM_152305.3
    POLG 100.00 1 NM_001126131.2
    POLG2 100.00 1 NM_007215.4
    POMGNT1 100.00 1 NM_001243766.1
    POMGNT2 100.00 1 NM_032806.6
    POMK 100.00 1 NM_032237.5
    POMT1 100.00 1 NM_001077365.2
    POMT2 100.00 1 NM_013382.5
    PREPL 100.00 1 NM_001171613.2
    PRKAG2 100.00 1 NM_016203.4
    PRPH 100.00 1 NM_006262.4
    PUS1 100.00 1 NM_025215.6
    PYGM 100.00 1 NM_005609.4
    PYROXD1 100.00 1 NM_024854.5
    RAPSN 100.00 1 NM_005055.5
    RBCK1 100.00 1 NM_031229.4
    RBM7 100.00 1 NM_001286045.1
    REEP1 100.00 1 NM_001371279.1
    RNASEH1 100.00 1 NM_002936.5
    RRM2B 100.00 1 NM_015713.5
    RXYLT1 100.00 1 NM_014254.3
    RYR1 100.00 1 NM_000540.3
    SCN4A 100.00 1 NM_000334.4
    SCO1 100.00 1 NM_004589.4
    SCO2 100.00 1 NM_005138.3
    SELENON 90.00 1 NM_020451.3
    SETX 100.00 1 NM_015046.7
    SGCA 100.00 1 NM_000023.4
    SGCB 100.00 1 NM_000232.5
    SGCD 100.00 1 XM_017009724.1
    SGCG 100.00 1 NM_000231.2
    SIGMAR1 100.00 1 NM_005866.4
    SIL1 100.00 1 NM_022464.5
    SLC18A3 100.00 1 NM_003055.3
    SLC22A5 100.00 1 NM_003060.4
    SLC25A20 100.00 1 NM_000387.6
    SLC25A4 100.00 1 NM_001151.4
    SLC52A2 100.00 1 NM_001363118.2
    SLC52A3 100.00 1 NM_033409.4
    SLC5A7 100.00 1 NM_021815.5
    SMCHD1 100.00 1 NM_015295.3
    SMN1 6.00 0 NM_000344.3+(exon 1 à 7 non couvert)
    SNAP25 100.00 1 NM_130811.4
    SOD1 100.00 1 NM_000454.5
    SPEG 100.00 1 NM_005876.5
    SPG11 100.00 1 NM_025137.4
    SPG7 100.00 1 NM_003119.4
    SPTBN4 100.00 1 NM_020971.3
    SQSTM1 100.00 1 NM_003900.5
    STAC3 100.00 1 NM_145064.3
    STIM1 100.00 1 NM_001277961.1
    SUCLA2 100.00 1 NM_003850.2
    SUCLG1 100.00 1 NM_003849.4
    SURF1 100.00 1 NM_003172.4
    SYNE1 100.00 1 NM_182961.4
    SYNE2 100.00 1 NM_182914.2
    SYT2 100.00 1 NM_177402.5
    TACO1 100.00 1 NM_016360.4
    TANGO2 100.00 1 NM_152906.7
    TARDBP 100.00 1 NM_007375.4
    TARS2 100.00 1 NM_025150.5
    TAFAZZIN 100.00 1 NM_000116.5
    TCAP 100.00 1 NM_003673.4
    TIA1 100.00 1 NM_022173.4
    TK2 100.00 1 NM_004614.5
    TMEM43 100.00 1 NM_024334.3
    TNNI2 100.00 1 NM_003282.4
    TNNT1 100.00 1 NM_003283.6
    TNNT3 100.00 1 NM_006757.4
    TNPO3 100.00 1 NM_012470.3
    TOP3A 100.00 1 NM_004618.5
    TOR1AIP1 100.00 1 NM_001267578.1
    TPM2 100.00 1 NM_003289.4
    TPM3 100.00 1 NM_152263.4
    TRAPPC11 100.00 1 NM_021942.6
    TRIM32 100.00 1 NM_012210.3
    TRIM54 100.00 1 NM_187841.3
    TRIM63 100.00 1 NM_032588.3
    TRIP4 100.00 1 NM_016213.5
    TRMT5 100.00 1 NM_020810.3
    TRPV4 100.00 1 NM_021625.5
    TSFM 100.00 1 NM_005726.6
    TTN 100.00 1 NM_001267550.2
    TUBA4A 100.00 1 NM_006000.3
    TWNK 100.00 1 NM_021830.5
    TYMP 100.00 1 NM_001257989.1
    UBA1 100.00 1 NM_003334.4
    UBQLN2 100.00 1 NM_013444.3
    VAMP1 100.00 1 NM_014231.5
    VAPB 100.00 1 NM_004738.5
    VARS1 100.00 1 NM_001167734.1
    VCP 100.00 1 NM_007126.5
    VMA21 100.00 1 NM_001363810.1
    VPS33B 100.00 1 NM_018668.5
    VRK1 100.00 1 NM_003384.3
    WARS1 100.00 1 NM_004184.4
    XK 100.00 1 NM_021083.4
    YARS2 100.00 1 NM_001040436.3
    ZC4H2 100.00 1 NM_018684.4
  • Nephrocalcinosis and nephrolithiasis (37 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY10 100.00 1 NM_018417.6
    AGT 100.00 1 NM_001384479.1
    AGXT 100.00 1 NM_000030.3
    APRT 100.00 1 NM_000485.3
    ATP6V0A4 100.00 1 NM_020632.3
    ATP6V1B1 100.00 1 NM_001692.4
    BSND 100.00 1 NM_057176.3
    CA2 100.00 1 NM_000067.3
    CASR 100.00 1 NM_000388.4
    CDC73 100.00 1 NM_024529.5
    CLCN5 100.00 1 NM_001127898.4
    CLDN16 100.00 1 NM_006580.4
    CLDN19 100.00 1 NM_148960.3
    CTNS 100.00 1 NM_004937.3
    CYP24A1 100.00 1 NM_000782.5
    FAM20A 100.00 1 NM_017565.4
    GNA11 100.00 1 NM_002067.5
    GRHPR 100.00 1 NM_012203.2
    HNF4A 100.00 1 NM_175914.5
    HOGA1 100.00 1 NM_138413.4
    HPRT1 100.00 1 NM_000194.3
    MEN1 100.00 1 NM_001370259.2
    MOCOS 100.00 1 NM_017947.4
    OCRL 100.00 1 NM_000276.4
    PHEX 100.00 1 NM_000444.6
    RRAGD 100.00 1 NM_021244.5
    SLC22A12 100.00 1 NM_144585.4
    SLC26A1 100.00 1 NM_022042.4
    SLC2A9 100.00 1 NM_020041.3
    SLC34A1 100.00 1 NM_003052.5
    SLC34A3 100.00 1 NM_001177316.2
    SLC3A1 100.00 1 NM_000341.4
    SLC4A1 100.00 1 NM_000342.4
    SLC7A9 100.00 1 NM_014270.5
    NHERF1 100.00 1 NM_004252.5
    VDR 100.00 1 NM_000376.3
    XDH 100.00 1 NM_000379.4
  • Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTN4 100.00 1 NM_004924.6
    AMN 100.00 1 NM_030943.4
    ANLN 100.00 1 NM_018685.5
    APOA1 100.00 1 NM_000039.3
    APOL1 100.00 1 NM_003661.4
    ARHGAP24 100.00 1 NM_001025616.3
    ARHGDIA 100.00 1 NM_004309.6
    AVIL 100.00 1 NM_006576.4
    B2M 100.00 1 NM_004048.4
    C3 100.00 1 NM_000064.4
    CD151 100.00 1 NM_004357.5
    CD2AP 100.00 1 NM_012120.3
    CLCN5 100.00 1 NM_001127898.4
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    COL4A6 100.00 1 NM_033641.4
    COQ2 100.00 1 NM_001358921.2
    COQ6 100.00 1 NM_182476.3
    COQ8A 100.00 1 NM_020247.5
    COQ8B 100.00 1 NM_024876.4
    CRB2 100.00 1 NM_173689.7
    CUBN 100.00 1 NM_001081.4
    DGKE 100.00 1 NM_003647.3
    EMP2 100.00 1 NM_001424.6
    FGA 100.00 1 NM_021871.4
    FN1 100.00 1 NM_212482.4
    G6PC1 100.00 1 NM_000151.4
    GLA 100.00 1 NM_000169.3
    GSN 100.00 1 NM_198252.3
    INF2 100.00 1 NM_022489.4
    KANK2 100.00 1 NM_001136191.3
    LAMB2 100.00 1 NM_002292.4
    LMX1B 100.00 1 NM_001174147.2
    LRP2 100.00 1 NM_004525.3
    LYZ 100.00 1 NM_000239.3
    MAGI2 100.00 1 NM_012301.4
    MYH9 100.00 1 NM_002473.6
    MYO1E 100.00 1 NM_004998.4
    NPHS1 100.00 1 NM_004646.4
    NPHS2 100.00 1 NM_014625.4
    NUP107 100.00 1 NM_020401.4
    NUP133 100.00 1 NM_018230.3
    NUP160 100.00 1 NM_015231.3
    NUP205 100.00 1 NM_015135.3
    NUP85 100.00 1 NM_024844.5
    NUP93 100.00 1 NM_014669.5
    OCRL 100.00 1 NM_000276.4
    PAX2 100.00 1 NM_000278.5
    PDSS2 100.00 1 NM_020381.4
    PLCE1 100.00 1 NM_016341.4
    PMM2 0.00 1 NM_000303.2 / only position Chr16(GRCh38):g.8797616 87976
    PTPRO 100.00 1 NM_030667.3
    SGPL1 100.00 1 NM_003901.4
    SLC35A1 100.00 1 NM_006416.5
    TBC1D8B 100.00 1 NM_017752.3
    TRPC6 100.00 1 NM_004621.6
    TTC21B 100.00 1 NM_024753.5
    TTR 100.00 1 NM_000371.4
    UMOD 100.00 1 NM_003361.4
    WDR73 100.00 1 NM_032856.5
    WT1 100.00 1 NM_024426.6
    GON7 100.00 1 NM_032490.5
    ITGA3 100.00 1 NM_002204.4
    KIRREL1 100.00 1 NM_018240.7
    LAGE3 100.00 1 NM_006014.5
    LAMA5 100.00 1 NM_005560.6
    NOS1AP 100.00 1 NM_014697.3
    OSGEP 100.00 1 NM_017807.4
    PODXL 94.00 1 NM_001018111.3
    SARS2 100.00 1 NM_017827.4
    SMARCAL1 100.00 1 NM_014140.4
    TP53RK 100.00 1 NM_033550.4
    TPRKB 100.00 1 NM_016058.5
    WDR4 100.00 1 NM_018669.6
    XPO5 100.00 1 NM_020750.3
    YRDC 100.00 1 NM_024640.4
  • Neurodegeneration (99 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    APP 100.00 1 NM_000484.4
    ATP13A2 100.00 1 NM_022089.4
    CHMP2B 100.00 1 NM_014043.4
    DCTN1 100.00 1 NM_004082.4
    ERBB4 100.00 1 NM_005235.3
    FIG4 100.00 1 NM_014845.6
    FUS 100.00 1 NM_004960.4
    GBA1 100.00 1 NM_000157.4
    GRN 100.00 1 NM_002087.3
    KIF5A 100.00 1 NM_004984.4
    LRRK2 100.00 1 NM_198578.4
    MAPT 100.00 1 NM_001123066.3
    MATR3 100.00 1 NM_018834.6
    NEFH 100.00 1 NM_021076.4
    NEK1 100.00 1 NM_001199397.3
    NOTCH3 100.00 1 NM_000435.3
    OPTN 100.00 1 NM_001008212.2
    PARK7 100.00 1 NM_007262.5
    PFN1 100.00 1 NM_005022.4
    PINK1 100.00 1 NM_032409.3
    PRKN 100.00 1 NM_004562.3
    PRNP 100.00 1 NM_000311.5
    PRPH 100.00 1 NM_006262.4
    PSEN1 100.00 1 NM_000021.4
    PSEN2 100.00 1 NM_000447.3
    SETX 100.00 1 NM_015046.7
    SIGMAR1 100.00 1 NM_005866.4
    SNCA 100.00 1 NM_000345.4
    SOD1 100.00 1 NM_000454.5
    SPG11 100.00 1 NM_025137.4
    TARDBP 100.00 1 NM_007375.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    VCP 100.00 1 NM_007126.5
    AARS2 100.00 1 NM_020745.4
    ABAT 100.00 1 NM_020686.6
    ABCB7 100.00 1 NM_001271696.3
    ABCD1 100.00 1 NM_000033.4
    ADPRS 100.00 1 NM_017825.3
    AFG3L2 100.00 1 NM_006796.3
    AP5Z1 100.00 1 NM_014855.3
    APOE 100.00 1 NM_000041.4
    ARSA 100.00 1 NM_000487.6
    ATP1A3 100.00 1 NM_152296.5
    ATP6AP2 100.00 1 NM_005765.3
    C19ORF12 100.00 1 NM_031448.6
    C9ORF72 100.00 1 NM_018325.5
    CCNF 100.00 1 NM_001761.3
    CHCHD10 100.00 1 NM_213720.3
    CHCHD2 100.00 1 NM_016139.4
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLN8 100.00 1 NM_018941.4
    COA7 100.00 1 NM_023077.3
    COASY 100.00 1 NM_025233.7
    CRAT 100.00 1 NM_000755.5
    CSF1R 100.00 1 NM_005211.3
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    DNAJC13 100.00 1 NM_015268.4
    DNAJC5 100.00 1 NM_025219.3
    DNAJC6 100.00 1 NM_001256864.2
    EIF4G1 100.00 1 NM_198241.3
    FA2H 100.00 1 NM_024306.5
    FBXO7 100.00 1 NM_012179.4
    FTL 100.00 1 NM_000146.4
    FXN 100.00 1 NM_000144.5
    GCH1 100.00 1 NM_000161.3
    GIGYF2 100.00 1 NM_001103146.3
    GLUD2 100.00 1 NM_012084.4
    GRID2 100.00 1 NM_001510.4
    IREB2 100.00 1 NM_004136.4
    ITM2B 100.00 1 NM_021999.5
    KLC4 100.00 1 NM_201521.3
    MFSD8 100.00 1 NM_001371596.2
    NPC1 100.00 1 NM_000271.5
    NPC2 100.00 1 NM_006432.5
    PANK2 100.00 1 NM_153638.3
    PGAP1 100.00 1 NM_024989.4
    PLA2G6 100.00 1 NM_003560.4
    PODXL 94.00 1 NM_001018111.3
    POLG 100.00 1 NM_001126131.2
    PPT1 100.00 1 NM_000310.4
    RAB18 100.00 1 NM_021252.5
    REPS1 100.00 1 NM_001286611.1
    SLC6A3 100.00 1 NM_001044.5
    SPG21 100.00 1 NM_016630.7
    SQSTM1 100.00 1 NM_003900.5
    SYNJ1 100.00 1 NM_003895.3
    TBK1 100.00 1 NM_013254.4
    UBTF 100.00 1 NM_014233.4
    UCHL1 100.00 1 NM_004181.5
    VPS13C 100.00 1 NM_020821.3
    VPS35 100.00 1 NM_018206.6
    WDR45 100.00 1 NM_001029896.2
  • Neuropathy (148 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ABHD12 100.00 1 NM_001042472.3
    AIFM1 100.00 1 NM_004208.4
    APTX 100.00 1 NM_001195248.2
    ARHGEF10 100.00 1 NM_014629.4
    ATL1 100.00 1 NM_015915.5
    ATP1A1 100.00 1 NM_000701.8
    ATP7A 100.00 1 NM_000052.7
    BICD2 100.00 1 NM_001003800.2
    BSCL2 100.00 1 NM_001122955.3
    MTRFR 100.00 1 NM_152269.5
    COX6A1 100.00 1 NM_004373.4
    CTDP1 100.00 1 NM_004715.5
    DCTN1 100.00 1 NM_004082.4
    DHTKD1 100.00 1 NM_018706.7
    DNAJB2 100.00 1 NM_006736.6
    DNM2 100.00 1 NM_001005361.3
    DNMT1 99.93 1 NM_001130823.3
    DST 100.00 1 NM_001144770.2
    DYNC1H1 100.00 1 NM_001376.5
    EGR2 100.00 1 NM_000399.5
    ELP1 100.00 1 NM_003640.5
    FBLN5 100.00 1 NM_006329.3
    FBXO38 100.00 1 NM_205836.3
    FGD4 100.00 1 NM_001304480.1
    FIG4 100.00 1 NM_014845.6
    GAN 100.00 1 NM_022041.3
    GARS1 100.00 1 NM_002047.4
    GDAP1 100.00 1 NM_018972.4
    GJB1 100.00 1 NM_000166.6
    GJB3 100.00 1 NM_024009.3
    GNB4 100.00 1 NM_021629.4
    HARS1 100.00 1 NM_002109.6
    HINT1 100.00 1 NM_005340.7
    HK1 100.00 1 NM_001358263.1
    HOXD10 100.00 1 NM_002148.4
    HSPB1 100.00 1 NM_001540.5
    HSPB3 100.00 1 NM_006308.3
    HSPB8 100.00 1 NM_014365.3
    IFRD1 100.00 1 NM_001007245.2
    IGHMBP2 100.00 1 NM_002180.3
    INF2 99.00 1 NM_022489.4
    KARS1 100.00 1 NM_001130089.1
    KIF1A 100.00 1 NM_001244008.1
    KIF1B 100.00 1 NM_015074.3
    KIF5A 100.00 1 NM_004984.4
    LITAF 100.00 1 NM_001136472.1
    LMNA 100.00 1 NM_170707.4
    LRSAM1 100.00 1 NM_001005373.3
    MARS1 100.00 1 NM_004990.4
    MED25 100.00 1 NM_030973.3
    MFN2 100.00 1 NM_014874.4
    MME 100.00 1 NM_007289.4
    MORC2 100.00 1 NM_001303256.3
    MPZ 100.00 1 NM_000530.8
    MTMR2 100.00 1 NM_016156.6
    MYH14 100.00 1 NM_001145809.2
    NAGLU 100.00 1 NM_000263.4
    NDRG1 100.00 1 NM_006096.4
    NEFH 100.00 1 NM_021076.4
    NEFL 100.00 1 NM_006158.5
    NGF 100.00 1 NM_002506.3
    NTRK1 100.00 1 NM_002529.3
    PDK3 100.00 1 NM_001142386.3
    PEX1 100.00 1 NM_000466.3
    PEX7 100.00 1 NM_000288.4
    PHYH 100.00 1 NM_006214.4
    PLEKHG5 100.00 1 NM_001265592.1
    PMP22 100.00 1 NM_000304.4
    POLG 100.00 1 NM_001126131.2
    PRDM12 98.36 1 NM_021619.3
    PRPS1 100.00 1 NM_002764.4
    PRX 100.00 1 NM_181882.3
    RAB7A 100.00 1 NM_004637.6
    REEP1 100.00 1 NM_001371279.1
    RETREG1 100.00 1 NM_001034850.2
    SBF1 100.00 1 NM_002972.4
    SBF2 100.00 1 NM_030962.3
    SCN11A 100.00 1 NM_001349253.2
    SCN9A 100.00 1 NM_001365536.1
    SCO2 100.00 1 NM_005138.3
    SETX 100.00 1 NM_015046.7
    SH3TC2 100.00 1 NM_024577.4
    SLC12A6 100.00 1 NM_001365088.1
    SLC5A7 100.00 1 NM_021815.5
    SOX10 100.00 1 NM_006941.4
    SPG11 100.00 1 NM_025137.4
    SPTLC1 100.00 1 NM_006415.4
    SPTLC2 100.00 1 NM_004863.3
    TDP1 100.00 1 NM_018319.4
    TECPR2 100.00 1 NM_014844.5
    TFG 100.00 1 NM_006070.6
    TRIM2 100.00 1 NM_015271.5
    TRPV4 100.00 1 NM_021625.5
    TTR 100.00 1 NM_000371.4
    TUBB3 100.00 1 NM_006086.4
    TYMP 100.00 1 NM_001257989.1
    VCP 100.00 1 NM_007126.5
    WNK1 100.00 1 NM_018979.4
    YARS1 100.00 1 NM_003680.3
    AAAS 100.00 1 NM_015665.6
    ALS2 100.00 1 NM_020919.4
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    ATL3 100.00 1 NM_015459.5
    CNTNAP1 100.00 1 NM_003632.3
    COA8 100.00 1 NM_001370595.1
    COL4A1 100.00 1 NM_001845.6
    DCAF8 100.00 1 NM_015726.4
    DCX 100.00 1 NM_001195553.2
    ERBB4 100.00 1 NM_005235.3
    FUS 100.00 1 NM_004960.4
    GBF1 100.00 1 NM_004193.3
    GCH1 100.00 1 NM_000161.3
    GLA 100.00 1 NM_000169.3
    HTRA1 100.00 1 NM_002775.5
    KLC2 100.00 1 NM_001134775.1
    MATR3 100.00 1 NM_018834.6
    MCM3AP 100.00 1 NM_003906.5
    MPV17 100.00 1 NM_002437.5
    NEK1 100.00 1 NM_001199397.3
    NFASC 100.00 1 NM_001005388.2
    OPTN 100.00 1 NM_001008212.2
    PDXK 100.00 1 NM_003681.5
    PFN1 100.00 1 NM_005022.4
    PMP2 100.00 1 NM_002677.5
    PNKP 100.00 1 NM_007254.4
    PRPH 100.00 1 NM_006262.4
    PTRH2 100.00 1 NM_016077.5
    SCN10A 100.00 1 NM_006514.3
    SEPTIN9 100.00 1 NM_001113491.2
    SGPL1 100.00 1 NM_003901.4
    SIGMAR1 100.00 1 NM_005866.4
    SLC25A46 100.00 1 NM_138773.4
    SMN1 6.96 1 NM_000344.3
    SOD1 100.00 1 NM_000454.5
    SORD 94.98 1 NM_003104.6
    SQSTM1 100.00 1 NM_003900.5
    SURF1 100.00 1 NM_003172.4
    SYT2 100.00 1 NM_177402.5
    TARDBP 100.00 1 NM_007375.4
    TIA1 100.00 1 NM_022173.4
    TRPA1 100.00 1 NM_007332.3
    TUBA1A 100.00 1 NM_006009.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    WARS1 100.00 1 NM_004184.4
  • Obesity - 13 genes - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY3 100.00 1 no
    BDNF 100.00 1 no
    LEP 100.00 1 no
    LEPR 100.00 1 no
    MC3R 100.00 1 no
    MC4R 100.00 1 no
    NR0B2 100.00 1 no
    NTRK2 100.00 1 no
    PCSK1 100.00 1 no
    POMC 100.00 1 no
    SIM1 100.00 1 no
    UCP3 100.00 1 no
    UCP2 100.00 1 NM_003355.3
  • Overgrowth (24 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADARB2 100.00 1 NM_018702.4
    AKT1 100.00 1 NM_001014431.2
    AKT3 100.00 1 NM_005465.7
    BRWD3 100.00 1 NM_153252.5
    CDKN1C 100.00 1 NM_001362474.2
    CHD3 100.00 1 NM_001005273.3
    CHD8 100.00 1 NM_001170629.2
    DIS3L2 100.00 1 NM_152383.4
    DNMT3A 100.00 1 NM_175629.2
    EED 100.00 1 NM_003797.5
    EZH2 100.00 1 NM_004456.5
    GPC3 100.00 1 NM_001164617.2
    H1-4 100.00 1 NM_005321.3
    KMT5B 100.00 1 NM_017635.5
    MTOR 100.00 1 NM_004958.4
    NFIX 100.00 1 NM_002501.4
    NSD1 100.00 1 NM_022455.4
    PDGFRB 100.00 1 NM_002609.4
    PIK3CA 100.00 1 NM_006218.4
    PPP2R5C 100.00 1 NM_001161725.1
    PPP2R5D 100.00 1 NM_006245.4
    PTEN 100.00 1 NM_000314.8
    SETD2 100.00 1 NM_014159.6
    TCF20 100.00 1 NM_005650.3
  • Pulmonary/Bronchiectasies (5 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR 100.00 1 NM_000492.4
    SCNN1A 100.00 1 NM_001038.6
    SCNN1B 100.00 1 NM_000336.3
    SCNN1G 100.00 1 NM_001039.4
    SERPINA1 100.00 1 NM_000295.5
  • Short Stature (46 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 90.00 1 NM_001369268.1
    ANKRD11 100.00 1 NM_013275.6
    BRAF 100.00 1 NM_001354609.2
    BTK 100.00 1 NM_000061.3
    CBL 100.00 1 NM_005188.4
    CCDC8 100.00 1 NM_032040.5
    CREBBP 100.00 1 NM_004380.3
    CUL7 100.00 1 NM_014780.5
    DHCR7 100.00 1 NM_001360.3
    DVL1 100.00 1 NM_001330311.2
    EP300 100.00 1 NM_001429.4
    FGD1 100.00 1 NM_004463.3
    FGFR3 100.00 1 NM_001163213.1
    GH1 100.00 1 NM_000515.5
    GHR 100.00 1 NM_000163.5
    GHRHR 100.00 1 NM_000823.4
    GHSR 100.00 1 NM_198407.2
    HRAS 100.00 1 NM_005343.4
    IGF1 100.00 1 NM_000618.5
    IGF1R 100.00 1 NM_000875.5
    IGF2 100.00 1 NM_000612.6
    IGFALS 100.00 1 NM_004970.3
    KDM6A 100.00 1 NM_001291415.2
    KMT2D 100.00 1 NM_003482.3
    KRAS 100.00 1 NM_033360.4
    NPPC 100.00 1 NM_024409.4
    NPR2 100.00 1 NM_003995.3
    NPR3 100.00 1 NM_001204375.2
    NRAS 100.00 1 NM_002524.5
    OBSL1 100.00 1 NM_015311.3
    PIK3R1 100.00 1 NM_181523.3
    POU1F1 100.00 1 NM_000306.4
    PTPN11 100.00 1 NM_002834.5
    RAF1 100.00 1 NM_001354689.3
    RASA2 100.00 1 NM_006506.5
    RIT1 100.00 1 NM_006912.6
    ROR2 100.00 1 NM_004560.4
    RPS6KA3 100.00 1 NM_004586.3
    SHOC2 100.00 1 NM_007373.4
    SHOX 100.00 1 NM_000451.3
    SOS1 100.00 1 NM_005633.3
    SOX3 100.00 1 NM_005634.2
    SRCAP 100.00 1 NM_006662.3
    STAT5B 100.00 1 NM_012448.4
    TRIM37 100.00 1 NM_015294.6
    WNT5A 100.00 1 NM_003392.4
  • Spastic Paraplegia (89 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALS2 100.00 1 NM_020919.4
    AMPD2 100.00 1 NM_001368809.2
    AP4B1 100.00 1 NM_001253852.3
    AP4E1 100.00 1 NM_007347.5
    AP4M1 100.00 1 NM_004722.4
    AP4S1 100.00 1 NM_001128126.3
    AP5Z1 100.00 1 NM_014855.3
    ARL6IP1 100.00 1 NM_015161.3
    ARSI 100.00 1 NM_001012301.4
    ATL1 100.00 1 NM_015915.5
    B4GALNT1 100.00 1 NM_001478.5
    BICD2 100.00 1 NM_001003800.2
    BSCL2 100.00 1 NM_001122955.3
    MTRFR 100.00 1 NM_152269.5
    C19ORF12 100.00 1 NM_031448.6
    CCT5 100.00 1 NM_012073.5
    CYP2U1 100.00 1 NM_183075.3
    CYP7B1 100.00 1 NM_004820.5
    DDHD1 100.00 1 NM_001160148.2
    DDHD2 100.00 1 NM_015214.3
    ENTPD1 100.00 1 NM_001776.6
    ERLIN1 100.00 1 NM_006459.4
    ERLIN2 100.00 1 NM_007175.8
    FA2H 100.00 1 NM_024306.5
    FLRT1 100.00 1 NM_013280.4
    GAD1 100.00 1 NM_000817.3
    GBA2 100.00 1 NM_020944.3
    GJA1 100.00 1 NM_000165.5
    GJC2 100.00 1 NM_020435.4
    HSPD1 100.00 1 NM_002156.5
    KIF1A 100.00 1 NM_001244008.1
    KIF1C 100.00 1 NM_006612.6
    KIF5A 100.00 1 NM_004984.4
    L1CAM 100.00 1 NM_001278116.2
    MAG 100.00 1 NM_002361.4
    MARS1 100.00 1 NM_004990.4
    NIPA1 100.00 1 NM_144599.5
    NT5C2 100.00 1 NM_001351169.2
    PGAP1 100.00 1 NM_024989.4
    PLP1 100.00 1 NM_000533.5
    PNPLA6 100.00 1 NM_001166111.2
    RAB3GAP2 100.00 1 NM_012414.4
    REEP1 100.00 1 NM_001371279.1
    REEP2 100.00 1 NM_001271803.2
    RTN2 100.00 1 NM_005619.5
    SACS 100.00 1 NM_014363.6
    SETX 100.00 1 NM_015046.7
    SLC16A2 100.00 1 NM_006517.5
    SLC33A1 100.00 1 NM_004733.4
    SPART 100.00 1 NM_015087.5
    SPAST 100.00 1 NM_014946.3
    SPG11 100.00 1 NM_025137.4
    SPG21 100.00 1 NM_016630.7
    SPG7 100.00 1 NM_003119.4
    TECPR2 100.00 1 NM_014844.5
    TFG 100.00 1 NM_006070.6
    USP8 100.00 1 NM_005154.5
    VCP 100.00 1 NM_007126.5
    VPS37A 100.00 1 NM_152415.3
    WASHC5 100.00 1 NM_014846.4
    WDR48 100.00 1 NM_020839.4
    ZFR 100.00 1 NM_016107.5
    ZFYVE26 100.00 1 NM_015346.4
    ADAR 100.00 1 NM_001111.5
    AFG3L2 100.00 1 NM_006796.3
    ALDH18A1 100.00 1 NM_002860.4
    ALDH3A2 100.00 1 NM_000382.3
    ATXN1 100.00 1 NM_000332.3
    CAPN1 100.00 1 NM_005186.4
    COA8 100.00 1 NM_001370595.1
    CPT1C 100.00 1 NM_001199753.1
    CYP27A1 100.00 1 NM_000784.4
    DSTYK 100.00 1 NM_015375.3
    FARS2 100.00 1 NM_006567.5
    GFAP 100.00 1 NM_002055.5
    GLRX5 100.00 1 NM_016417.3
    HACE1 100.00 1 NM_020771.4
    IBA57 100.00 1 NM_001010867.4
    ITPR1 100.00 1 NM_001168272.1
    KIDINS220 100.00 1 NM_020738.4
    KLC2 100.00 1 NM_001134775.1
    KLC4 100.00 1 NM_201521.3
    PCYT2 100.00 1 NM_002861.5
    RAB18 100.00 1 NM_021252.5
    RAB3GAP1 100.00 1 NM_012233.3
    TBC1D20 100.00 1 NM_144628.4
    UBAP1 100.00 1 NM_016525.5
    UCHL1 100.00 1 NM_004181.5
    ZFYVE27 100.00 1 NM_001002261.3
  • Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATXN1
    ATXN2
    ATXN3
    CACNA1A
    ATXN7
    TBP
  • Tubulopathy/Nephrolithiasis (106 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY10 100.00 1 NM_018417.6
    AGXT 100.00 1 NM_000030.3
    ALDOB 100.00 1 NM_000035.4
    ALPL 100.00 1 NM_000478.6
    AP2S1 100.00 1 NM_004069.6
    AQP2 100.00 1 NM_000486.6
    ATP6V0A4 100.00 1 NM_020632.3
    ATP6V1B1 100.00 1 NM_001692.4
    ATP7B 100.00 1 NM_000053.4
    AVPR2 100.00 1 NM_000054.7
    BSND 100.00 1 NM_057176.3
    CASR 100.00 1 NM_000388.4
    CLCN5 100.00 1 NM_001127898.4
    CLCNKB 100.00 1 NM_000085.5
    CLDN10 100.00 1 NM_006984.5
    CLDN16 100.00 1 NM_006580.4
    CLDN19 100.00 1 NM_148960.3
    CNNM2 100.00 1 NM_017649.5
    CTNS 100.00 1 NM_004937.3
    CUL3 100.00 1 NM_003590.5
    CYP24A1 100.00 1 NM_000782.5
    EGF 100.00 1 NM_001963.6
    EGFR 100.00 1 NM_005228.5
    EHHADH 100.00 1 NM_001966.4
    FAH 100.00 1 NM_000137.4
    FAN1 100.00 1 NM_014967.5
    FGF23 100.00 1 NM_020638.3
    FXYD2 100.00 1 NM_001680.5
    G6PC1 100.00 1 NM_000151.4
    GALT 100.00 1 NM_000155.4
    GATM 100.00 1 NM_001482.3
    GNA11 100.00 1 NM_002067.5
    GRHPR 100.00 1 NM_012203.2
    HNF1B 100.00 1 NM_000458.4
    HOGA1 100.00 1 NM_138413.4
    HSD11B2 100.00 1 NM_000196.4
    KCNJ1 100.00 1 NM_153766.3
    KCNJ10 100.00 1 NM_002241.5
    KLHL3 100.00 1 NM_017415.3
    MAGED2 100.00 1 NM_177433.3
    NR3C2 100.00 1 NM_000901.5
    OCRL 100.00 1 NM_000276.4
    PCBD1 100.00 1 NM_000281.4
    PHEX 100.00 1 NM_000444.6
    REN 100.00 1 NM_000537.4
    SCNN1A 100.00 1 NM_001038.6
    SCNN1B 100.00 1 NM_000336.3
    SCNN1G 100.00 1 NM_001039.4
    SEC61A1 100.00 1 NM_013336.4
    SLC12A1 100.00 1 NM_000338.3
    SLC12A3 100.00 1 NM_001126108.2
    SLC2A2 100.00 1 NM_000340.2
    SLC34A1 100.00 1 NM_003052.5
    SLC34A3 100.00 1 NM_001177316.2
    SLC3A1 100.00 1 NM_000341.4
    SLC4A1 100.00 1 NM_000342.4
    SLC4A4 100.00 1 NM_001098484.3
    SLC5A2 100.00 1 NM_003041.4
    SLC7A9 100.00 1 NM_014270.5
    NHERF1 100.00 1 NM_004252.5
    TRPM6 100.00 1 NM_017662.5
    UMOD 100.00 1 NM_003361.4
    VDR 100.00 1 NM_000376.3
    VIPAS39 100.00 1 NM_001193315.2
    VPS33B 100.00 1 NM_018668.5
    WNK1 100.00 1 NM_018979.4
    WNK4 100.00 1 NM_032387.5
    AGTR1 100.00 1 NM_000685.5
    APRT 100.00 1 NM_000485.3
    CA2 100.00 1 NM_000067.3
    CACNA1H 100.00 1 NM_021098.3
    CLCN2 100.00 1 NM_004366.6
    CLCNKA 100.00 1 NM_004070.4
    CYP11B1 100.00 1 NM_000497.4
    CYP17A1 100.00 1 NM_000102.4
    DMP1 100.00 1 NM_004407.4
    ENPP1 100.00 1 NM_006208.3
    FANCA 100.00 1 no
    FAM20A 100.00 1 NM_017565.4
    FOXI1 100.00 1 NM_012188.5
    HNF1A 100.00 1 NM_000545.8
    HNF4A 100.00 1 NM_175914.5
    HPRT1 100.00 1 NM_000194.3
    KCNJ16 100.00 1 NM_170741.4
    KCNJ5 100.00 1 NM_000890.5
    KL 100.00 1 NM_004795.4
    LAGE3 100.00 1 NM_006014.5
    LDHD 100.00 1 NM_194436.3
    LRP2 100.00 1 NM_004525.3
    MEN1 100.00 1 NM_001370259.2
    MOCOS 100.00 1 NM_017947.4
    PRPS1 100.00 1 NM_002764.4
    SLC16A12 100.00 1 NM_213606.4
    SLC22A12 100.00 1 NM_144585.4
    SLC2A9 100.00 1 NM_020041.3
    SLC36A2 100.00 1 NM_181776.3
    SLC5A1 100.00 1 NM_000343.4
    SLC6A19 100.00 1 NM_001003841.3
    SLC6A20 100.00 1 NM_020208.4
    WDR72 100.00 1 NM_182758.4
    WFS1 100.00 1 NM_006005.3
    XDH 100.00 1 NM_000379.4
    AGT 100.00 1 NM_001384479.1
    CDC73 100.00 1 NM_024529.5
    RRAGD 100.00 1 NM_021244.5
    SLC26A1 100.00 1 NM_022042.4
    SLC41A1 100.00 1 NM_173854.6