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  2. Centrum Medische Genetica - UZ Antwerpen

Centrum Medische Genetica - UZ Antwerpen

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Name of the laboratory:
Centrum Medische Genetica - UZ Antwerpen
Abbreviation:
UZA
Institute name:
University Hospital of Antwerp UZA
Abbreviation institute:
UZA
RIZIV number:
81199094-996
Address:

Prins Boudewijnlaan, 43/6
2650 Edegem
Antwerp
Belgium
Telephone:
0032 3 275 9774
Fax:
0032 3 275 9723
E-mail:
medische.genetica@uza.be
URL:
https://labogidsmedgen.uza.be/analyses
https://ng3.economie.fgov.be/NI/belac/medilabs/scope_pdf/419-MED.pdf
https://www.uza.be/genetica
https://www.genetica-antwerpen.be/
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
2015 Postnatal constitutional CNV detection (array) EMQN
2016 Postnatal constitutional CNV detection (array) EMQN
2017 Postnatal constitutional CNV detection (array) EMQN
2018 Postnatal constitutional CNV detection (array) EMQN
2019 Postnatal constitutional CNV detection (array) EMQN
2020 Postnatal constitutional CNV detection EMQN
2021 Postnatal constitutional CNV detection EMQN
2022 Postnatal constitutional CNV detection EMQN
2023 Postnatal constitutional CNV detection EMQN
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)
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)
2022 Postnatal karyotyping GenQA (Genomics Quality Assessment)
2023 Postnatal karyotyping GenQA (Genomics Quality Assessment)
2018 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2019 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2020 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2021 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2022 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2023 PGT for monogenic disorders GenQA (Genomics Quality Assessment)
2022 PGT for chromosomal rearrangements (NGS/arrays) GenQA (Genomics Quality Assessment)
2023 PGT for chromosomal rearrangements (NGS/arrays) 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)
2022 Non-invasive prenatal testing (NIPT) for common aneuploidies EMQN
2023 Non-invasive prenatal testing (NIPT) for common aneuploidies EMQN
Created:
27 Jul 2018 - 13:26
Changed:
22 Jan 2024 - 15:23
  • Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ASPA
    HEXA
    ELP1
    FANCC
  • (Familial) epilepsy without developmental delay (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATP1A2 99.96 1
    ATP1A3 99.99 1
    CHRNA2 100.00 1
    CHRNA4 99.75 1
    CHRNB2 99.96 1
    CPA6 99.98 1
    DEPDC5 99.97 1
    FLNA 99.89 1
    GABRA1 99.98 1
    GABRB3 99.96 1
    GABRG2 97.95 1
    GRIN2A 99.95 1
    HCN1 99.78 1
    HCN2 81.16 1
    KCNMA1 99.95 1
    KCNQ2 99.98 1
    KCNQ3 99.74 1
    KCNT1 99.93 1
    LGI1 99.99 1
    MTOR 99.88 1
    NEXMIF 99.85 1
    NPRL2 100.00 1
    NPRL3 99.98 1
    PCDH19 99.93 1
    PRRT2 100.00 1
    RELN 99.94 1
    RORB 99.95 1
    SCN1A 99.89 1
    SCN1B 99.63 1
    SCN2A 99.92 1
    SCN3A 99.95 1
    SCN8A 99.90 1
    SLC2A1 100.00 1
    SLC32A1 100.00 1
    SLC7A3 99.48 1
    STX1B 99.92 1
    TBC1D24 99.97 1
    TSC1 99.96 1
    TSC2 99.99 1
    SETD1A 99.55 1
  • Adams-Oliver (6 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ARHGAP31
    DOCK6
    RBPJ
    NOTCH1
    DLL4
    EOGT
  • Breast/ ovarian cancer (12 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1
    BRCA2
    PALB2
    TP53
    CHEK2
    ATM
    BRIP1
    RAD51C
    RAD51D
    MLH1
    MSH2
    MSH6
  • Cardiomyopathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0
    ACTC1 100.00 0
    ACTN2 100.00 0
    ANKRD1 100.00 0
    BAG3 100.00 0
    CAV3 100.00 0
    CRYAB 100.00 0
    CSRP3 100.00 0
    CTNNA3 100.00 0
    DES 100.00 0
    DSC2 100.00 0
    DSG2 100.00 0
    DSP 100.00 0
    EMD 100.00 0
    FHL1 100.00 0
    GLA 100.00 0
    JUP 100.00 0
    LAMA4 100.00 0
    LAMP2 100.00 0
    LDB3 100.00 0
    LMNA 100.00 0
    MIB1 100.00 0
    MYBPC3 100.00 0
    MYH6 98.00 0
    MYH7 100.00 0
    MYL2 100.00 0
    NEXN 100.00 0
    PKP2 100.00 0
    PLN 100.00 0
    PRDM16 100.00 0
    PRKAG2 100.00 0
    RBM20 100.00 0
    SCN5A 100.00 0
    SGCD 99.00 0
    TAFAZZIN 100.00 0
    TCAP 100.00 0
    TGFB3 100.00 0
    TMEM43 100.00 0
    TNNC1 100.00 0
    TNNI3 100.00 0
    TNNT2 100.00 0
    TPM1 100.00 0
    TTN 100.00 0
    TTR 100.00 0
    VCL 100.00 0
    RYR2 100.00 0
    FLNC 100.00 0
    FHL2 100.00 0
    NEBL 100.00 0
    RAF1 100.00 0
    SDHA 100.00 0
    SYNE1 100.00 0
    CALR3 100.00 0
    JPH2 100.00 0
    ALPK3 100.00 0
    MYL3 100.00 0
    MYOZ2 100.00 0
    MYPN 100.00 0
    PPA2 100.00 0
    CALR3 100.00 0
    CDH2 100.00 0
    DOLK 100.00 0
    JPH2 100.00 0
    MYL3 100.00 0
    MYLK3 100.00 0
    MYOZ2 100.00 0
    NRAP 100.00 0
    RPL3L 100.00 0
    TNNI3K 100.00 0
  • Cerebral palsy (212 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACOX1
    ADA2
    ADCY5
    ADD3
    AFG3L2
    AHI1
    AIMP1
    AKT3
    ALDH3A2
    ALDH5A1
    AMT
    AP4B1
    AP4E1
    AP4M1
    AP4S1
    ARG1
    ARSA
    ARX
    ASPA
    ATL1
    ATM
    ATP7B
    AUTS2
    BCKDHA
    BCKDHB
    BSCL2
    BTD
    MTRFR
    CDKL5
    CEP290
    CLN3
    COL4A1
    COL4A2
    COQ8A
    CYP2U1
    CYP7B1
    DARS1
    DBT
    DDC
    DDHD1
    DDHD2
    DLD
    DYRK1A
    EIF2B1
    EIF2B2
    EIF2B3
    EIF2B4
    EIF2B5
    ELP2
    ERLIN2
    F10
    HYCC1
    FH
    FOXC1
    FOXG1
    GAD1
    GALC
    GALT
    GAMT
    GBA1
    GCH1
    GCSH
    GFAP
    GJC2
    GLB1
    GLDC
    GLRA1
    GM2A
    GPHN
    GRID2
    GRIN1
    GRIN2B
    HESX1
    HEXA
    HIKESHI
    HPRT1
    HSPD1
    IFIH1
    ISG15
    ITPR1
    KANK1
    KCNC3
    KDM5C
    KIF1A
    KIF1C
    KIF5A
    L1CAM
    L2HGDH
    LAMA2
    MARS2
    MCPH1
    MECP2
    MOCS1
    MOCS2
    MTHFR
    MTOR
    MTPAP
    MTTP
    MMUT
    NIPA1
    NKX2-1
    NKX6-2
    NOTCH3
    NPC1
    NPC2
    NPHP1
    PAFAH1B1
    PAK3
    PANK2
    PCCA
    PCCB
    PDHA1
    PDHX
    PHYH
    PIK3CA
    PLA2G6
    PLAA
    PLP1
    PMM2
    PNP
    POLG
    POLR1C
    POLR3A
    POLR3B
    PPT1
    PYCR2
    QDPR
    RARS1
    REEP1
    RNASEH2A
    RNASEH2B
    RNASEH2C
    RNASET2
    RTN2
    SACS
    SAMHD1
    SCN8A
    SEPSECS
    SHH
    SIX3
    SLC16A2
    SLC17A5
    SLC19A3
    SLC2A1
    SLC5A6
    SLC6A1
    SLC6A5
    SPAST
    SPG11
    SPG7
    SPR
    SPTBN2
    SUOX
    SURF1
    TECPR2
    TGIF1
    TH
    TPP1
    TRAPPC12
    TREX1
    TSEN15
    TSEN2
    TSEN54
    TTPA
    TUBA1A
    TUBA8
    TUBB
    TUBB2A
    TUBB2B
    TUBB3
    TUBB4A
    TUBG1
    UBE3A
    USP18
    VPS11
    VPS37A
    VPS53
    ZFYVE26
    ZIC2
    ACTA2
    ALS2
    AMPD2
    ATAD3A
    CACNA1A
    CTNNB1
    DGUOK
    EPHB4
    FBXO31
    FLVCR2
    GNAO1
    GNB1
    JAM3
    KCNQ2
    KIDINS220
    NT5C2
    PCYT2
    RASA1
    SELENOI
    ST3GAL5
    STAT2
    STING1
    STXBP1
    TAF2
    YY1AP1
    ZBTB18
    ZC4H2
  • Dementia, young onset (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APOE 100.00 1
    APP 100.00 1
    CHCHD10 100.00 1
    CHMP2B 100.00 1
    CSF1R 100.00 1
    FUS 100.00 1
    GRN 100.00 1
    HTRA1 95.00 1
    ITM2B 100.00 1
    MAPT 100.00 1
    NOTCH3 98.00 1
    OPTN 100.00 1
    PRNP 100.00 1
    PSEN1 100.00 1
    PSEN2 100.00 1
    TARDBP 100.00 1
    TBK1 100.00 1
    TREM2 100.00 1
    TYROBP 100.00 1
    UBQLN2 100.00 1
    VCP 100.00 1
  • Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    GCK 99.99 1
    HNF1A 100.00 1
    HNF1B 100.00 1
    HNF4A 99.94 1
    INS 100.00 1
    ABCC8 99.99 1
    KCNJ11 100.00 1
    GLUD1 99.96 1
    HADH 99.97 1
    INSR 99.85 1
    SLC16A1 99.96 1
  • Familial Hypercholesterolemia panel (8 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR
    APOB
    APOE
    PCSK9
    LDLRAP1
    LIPA
    ABCG5
    ABCG8
  • Familial Thoracic Aortic Aneurysm (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 100.00 0
    ACTA2 100.00 0
    ARIH1 100.00 0
    ASPH 100.00 0
    BGN 100.00 0
    COL3A1 100.00 0
    EFEMP2 100.00 0
    ELN 100.00 0
    EMILIN1 100.00 0
    FBN1 100.00 1
    FBN2 100.00 0
    FKBP14 100.00 0
    FLNA 100.00 0
    FOXE3 100.00 0
    HCN4 100.00 0
    IPO8 100.00 0
    JAG1 100.00 0
    LMOD1 100.00 0
    LOX 100.00 0
    LTBP3 100.00 0
    MAT2A 100.00 0
    MFAP5 100.00 0
    MYH11 100.00 0
    MYLK 100.00 0
    NOTCH1 100.00 0
    NPR3 100.00 0
    PLOD1 100.00 0
    PMEPA1 100.00 0
    PRKG1 100.00 0
    ROBO4 100.00 0
    SKI 100.00 0
    SLC2A10 100.00 0
    SMAD2 100.00 0
    SMAD3 100.00 0
    SMAD4 100.00 0
    SMAD6 100.00 0
    TBX20 100.00 0
    TGFB2 100.00 0
    TGFB3 100.00 0
    TGFBR1 100.00 0
    TGFBR2 100.00 1
    THSD4 100.00 0
  • Growth retardation/short stature (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 98.48 1
    ALPL 99.97 1
    ANKRD11 100.00 1
    ARCN1 99.91 1
    ARID1A 98.84 1
    ARID1B 97.80 1
    ARID2 99.96 1
    BMP2 99.97 1
    BRAF 98.17 1
    BTK 99.34 1
    CBL 99.89 1
    CCDC8 100.00 1
    CDC45 100.00 1
    CDC6 99.94 1
    CDKN1C 97.19 1
    CDT1 94.33 1
    CREBBP 99.91 1
    CUL7 100.00 1
    DHCR7 100.00 1
    DVL1 100.00 1
    EP300 99.96 1
    FGD1 98.85 1
    FGFR3 99.67 1
    FLNA 99.89 1
    GH1 100.00 1
    GHR 99.78 1
    GHRHR 99.79 1
    GHSR 99.99 1
    GMNN 99.70 1
    HESX1 99.81 1
    HMGA2 72.70 1
    HRAS 100.00 1
    IGF1 99.96 1
    IGF1R 99.98 1
    IGF2 100.00 1
    IGFALS 100.00 1
    IHH 99.93 1
    KDM6A 98.95 1
    KMT2A 99.18 1
    KMT2D 99.98 1
    KRAS 99.92 1
    LZTR1 99.99 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK1 99.56 1
    MRAS 100.00 1
    NBAS 99.97 1
    NPR2 99.97 1
    NRAS 99.45 1
    OBSL1 99.32 1
    ORC1 99.96 1
    ORC4 99.90 1
    ORC6 99.91 1
    PAPPA2 99.91 1
    PIK3R1 99.80 1
    PLAG1 99.90 1
    POC1A 99.98 1
    POU1F1 99.92 1
    PPP1CB 99.99 1
    PTPN11 99.91 1
    RAF1 99.96 1
    RASA2 99.59 1
    RIT1 99.96 1
    RNPC3 99.76 1
    ROR2 99.24 1
    RRAS2 99.60 1
    SHOC2 99.81 1
    SHOX 94.81 1
    SMARCA4 99.98 1
    SMARCB1 100.00 1
    SOS1 99.81 1
    SOS2 99.70 1
    SOX3 97.93 1
    SPRED2 99.96 1
    SRCAP 99.97 1
    STAT5B 99.94 1
    TOP3A 99.95 1
    TRIM37 99.81 1
    WNT5A 99.96 1
    YY1 99.63 1
  • Hearing loss (deafness) (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.11 1
    ACTG1 100.00 1
    ADCY1 98.44 1
    ADGRV1 99.88 1
    AIFM1 99.43 1
    ATOH1 100.00 1
    ATP11A 99.99 1
    ATP2B2 99.96 1
    ATP6V0A4 99.83 1
    ATP6V1B1 99.92 1
    ATP6V1B2 99.91 1
    BDP1 99.89 1
    BSND 100.00 1
    CABP2 99.99 1
    CACNA1D 99.94 1
    CCDC50 99.92 1
    CD164 99.92 1
    CDC14A 99.95 1
    CDH23 99.95 1
    CEACAM16 99.92 1
    CEP250 99.98 1
    CEP78 99.83 1
    CHD7 99.96 1
    CIB2 99.99 1
    CISD2 99.95 1
    CLDN14 100.00 1
    CLIC5 99.98 1
    CLPP 100.00 1
    CLRN1 99.97 1
    COCH 99.90 1
    COL11A1 99.89 1
    COL11A2 99.35 1
    COL2A1 100.00 1
    COL4A3 99.94 1
    COL4A4 99.96 1
    COL4A5 99.18 1
    COL4A6 99.37 1
    COL9A1 99.98 1
    COL9A2 99.95 1
    COL9A3 99.86 1
    CRYL1 99.89 1
    CRYM 99.91 1
    DCDC2 99.93 1
    DIABLO 99.98 1
    DIAPH1 97.50 1
    DIAPH3 99.86 1
    DMXL2 99.40 1
    DNAAF10 99.97 1
    EDN3 100.00 1
    EDNRB 99.94 1
    ELMOD3 100.00 1
    EPHA10 97.51 1
    EPS8 99.87 1
    EPS8L2 99.87 1
    ERAL1 99.97 1
    ESPN 96.05 1
    ESRP1 99.81 1
    ESRRB 100.00 1
    EYA1 99.93 1
    EYA4 99.98 1
    FDXR 99.98 1
    FGF3 98.11 1
    FOXI1 100.00 1
    GATA3 99.89 1
    GIPC3 97.45 1
    GJB2 100.00 1
    GJB3 100.00 1
    GJB6 100.00 1
    GPSM2 99.94 1
    GRHL2 99.95 1
    GRXCR1 100.00 1
    GRXCR2 99.91 1
    GSDME 99.97 1
    HARS1 99.99 1
    HARS2 99.51 1
    HECTD3 99.39 1
    HGF 99.96 1
    HOMER2 99.74 1
    HOXA2 99.93 1
    HSD17B4 99.80 1
    IFNLR1 99.52 1
    ILDR1 99.95 1
    KARS1 99.91 1
    KCNE1 100.00 1
    KCNJ10 100.00 1
    KCNQ1 99.87 1
    KCNQ4 99.49 1
    KITLG 99.87 1
    LARS2 99.99 1
    LHFPL5 99.99 1
    LMX1A 100.00 1
    LOXHD1 99.73 1
    LRTOMT 99.99 1
    MARVELD2 99.96 1
    MCM2 99.96 1
    MET 99.97 1
    MIR96 100.00 1
    MITF 99.97 1
    MPZL2 99.96 1
    MSRB3 99.96 1
    MTAP 98.96 1
    MYH14 99.79 1
    MYH9 100.00 1
    MYO15A 99.59 1
    MYO3A 99.84 1
    MYO6 99.77 1
    MYO7A 99.99 1
    NARS2 99.94 1
    NDP 99.95 1
    NLRP3 99.90 1
    OSBPL2 100.00 1
    OTOA 99.83 1
    OTOF 99.95 1
    OTOG 99.99 1
    OTOGL 99.63 1
    P2RX2 99.91 1
    PAX3 99.98 1
    PCDH15 99.94 1
    PDE1C 99.92 1
    PDZD7 99.82 1
    PI4KB 99.55 1
    PJVK 99.79 1
    PLS1 99.80 1
    PNPT1 99.86 1
    POLR1B 99.95 1
    POLR1C 97.52 1
    POLR1D 99.72 1
    POU3F4 99.94 1
    POU4F3 100.00 1
    PPIP5K2 99.83 1
    PRPS1 99.79 1
    PTPRQ 99.83 1
    RDX 99.80 1
    REST 99.96 1
    RIPOR2 99.96 1
    ROR1 98.58 1
    S1PR2 100.00 1
    SALL1 99.99 1
    SEMA3E 99.97 1
    SERPINB6 98.21 1
    SIX1 100.00 1
    SIX5 99.87 1
    SLC12A2 98.96 1
    SLC17A8 99.95 1
    SLC22A4 99.96 1
    SLC26A4 99.95 1
    SLC26A5 99.95 1
    SLC4A11 99.99 1
    SLC7A8 99.99 1
    SLITRK6 100.00 1
    SMPX 99.37 1
    SNAI2 99.98 1
    SOX10 100.00 1
    SPATC1L 100.00 1
    SSBP1 99.99 1
    STRC 99.73 1
    SYNE4 100.00 1
    TBC1D24 99.97 1
    TCOF1 99.96 1
    TECTA 99.97 1
    THRAP3 99.89 1
    TIMM8A 99.78 1
    TJP2 99.94 1
    TMC1 99.83 1
    TMEM132E 99.75 1
    TMIE 99.95 1
    TMPRSS3 99.95 1
    TMTC2 99.96 1
    TNC 99.97 1
    TPRN 90.56 1
    TRIOBP 99.09 1
    TSPEAR 99.97 1
    TWNK 100.00 1
    USH1C 98.72 1
    USH1G 99.96 1
    USH2A 99.95 1
    USP48 99.80 1
    WBP2 99.86 1
    WFS1 100.00 1
    WHRN 99.69 1
  • Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AMPD2 99.99 1
    AP4B1 99.97 1
    ATP13A2 99.98 1
    CAMTA1 99.97 1
    COA7 100.00 1
    COQ8A 100.00 1
    COX20 99.40 1
    DARS2 99.86 1
    EIF2B3 99.95 1
    FLVCR1 99.93 1
    GDAP2 99.96 1
    GJC2 96.12 1
    HPDL 100.00 1
    IBA57 96.45 1
    KCNA2 100.00 1
    KCND3 100.00 1
    MMACHC 99.99 1
    MSTO1 98.87 1
    PUM1 99.95 1
    RNF220 99.95 1
    SLC9A1 99.86 1
    TMEM240 99.83 1
    TOE1 99.99 1
    VPS13D 99.85 1
    ALDH18A1 99.96 1
    CWF19L1 99.89 1
    ENTPD1 99.90 1
    ERLIN1 99.96 1
    NKX6-2 96.38 1
    NT5C2 99.89 1
    PHYH 99.65 1
    POLR3A 99.95 1
    ATM 99.83 1
    BSCL2 100.00 1
    CAPN1 100.00 1
    CLP1 100.00 1
    FAR1 99.83 1
    HIKESHI 99.89 1
    MRE11 99.90 1
    SCYL1 99.64 1
    SPTBN2 99.99 1
    TPP1 99.88 1
    AAAS 99.98 1
    B4GALNT1 99.95 1
    EIF2B1 99.96 1
    KCNA1 99.96 1
    KIF5A 99.93 1
    MTRFR 99.85 1
    PRICKLE1 99.97 1
    SCN8A 99.90 1
    VAMP1 99.70 1
    ATP7B 99.99 1
    ATP8A2 99.96 1
    EXOSC8 99.69 1
    FGF14 99.79 1
    KPNA3 99.96 1
    SACS 99.98 1
    SPART 99.99 1
    AP4S1 87.70 1
    ATL1 99.95 1
    DDHD1 99.98 1
    EIF2B2 99.84 1
    GALC 99.88 1
    GCH1 99.74 1
    GLRX5 98.29 1
    IRF2BPL 98.65 1
    NPC2 99.99 1
    TMEM63C 99.99 1
    VRK1 99.94 1
    ZFYVE26 99.96 1
    AP4E1 99.89 1
    CLN6 98.04 1
    HEXA 99.98 1
    NIPA1 96.26 1
    POLG 99.98 1
    SPG11 99.94 1
    SPG21 99.99 1
    TTBK2 99.88 1
    WDR73 99.99 1
    ARL6IP1 99.84 1
    CHMP1A 100.00 1
    FA2H 99.93 1
    SPG7 99.99 1
    STUB1 99.73 1
    CACNA1G 99.89 1
    COASY 99.98 1
    GFAP 99.94 1
    GOSR2 99.75 1
    KIF1C 99.99 1
    NPTX1 99.35 1
    PCYT2 97.60 1
    TSEN54 98.24 1
    VPS53 99.98 1
    WDR45B 99.96 1
    WDR81 100.00 1
    AFG3L2 99.82 1
    NPC1 99.84 1
    ATCAY 99.99 1
    ATP1A3 99.99 1
    C19ORF12 99.36 1
    CACNA1A 99.66 1
    CPT1C 99.99 1
    DNMT1 99.88 1
    EEF2 99.99 1
    KCNC3 94.29 1
    MAG 99.81 1
    OPA3 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    PRKCG 99.90 1
    RTN2 99.99 1
    TUBB4A 98.81 1
    ALS2 99.91 1
    ATP5MC3 100.00 1
    CYP27A1 99.96 1
    DARS1 99.87 1
    EIF2B4 99.94 1
    HSPD1 99.95 1
    KIDINS220 99.97 1
    KIF1A 99.96 1
    MARS2 100.00 1
    PGAP1 99.64 1
    REEP1 99.99 1
    SELENOI 99.88 1
    SLC1A4 99.95 1
    SPAST 99.83 1
    ABHD12 99.11 1
    DNAJC5 99.99 1
    PDYN 99.98 1
    TGM6 100.00 1
    ARSA 100.00 1
    PLA2G6 99.98 1
    ANO10 99.92 1
    ATG7 99.98 1
    BTD 99.99 1
    CACNA2D2 99.32 1
    CLCN2 99.97 1
    CTNNB1 99.98 1
    EIF2B5 99.95 1
    ITPR1 99.94 1
    OPA1 99.87 1
    RUBCN 99.94 1
    SLC33A1 99.82 1
    TFG 99.34 1
    TSEN2 86.92 1
    AIMP1 99.90 1
    CYP2U1 97.44 1
    EXOSC9 99.86 1
    GRID2 99.98 1
    MTTP 99.96 1
    RFC1 99.44 1
    SEPSECS 99.84 1
    UCHL1 99.99 1
    CCT5 99.97 1
    FAT2 99.94 1
    HEXB 99.91 1
    PCDH12 100.00 1
    REEP2 100.00 1
    SIL1 99.99 1
    SLC1A3 99.90 1
    SLC25A46 99.93 1
    SQSTM1 100.00 1
    THG1L 99.95 1
    ABHD16A 100.00 1
    ARG1 99.98 1
    ELOVL4 99.92 1
    ELOVL5 99.95 1
    FARS2 99.98 1
    GRM1 99.87 1
    HACE1 99.91 1
    PEX7 99.87 1
    RARS2 97.34 1
    SNX14 99.73 1
    SYNE1 99.96 1
    TDP2 99.85 1
    AP4M1 100.00 1
    AP5Z1 99.94 1
    COG5 99.92 1
    IFRD1 99.96 1
    PMPCB 99.98 1
    RNF216 99.99 1
    SAMD9L 99.98 1
    VPS41 99.95 1
    CA8 99.97 1
    CYP7B1 99.87 1
    DDHD2 99.74 1
    ERLIN2 99.94 1
    GPAA1 99.88 1
    RNF170 99.94 1
    TTPA 99.97 1
    WASHC5 99.90 1
    APTX 99.92 1
    AUH 99.95 1
    EXOSC3 99.98 1
    GBA2 99.97 1
    INPP5E 99.75 1
    PMPCA 99.99 1
    SETX 99.96 1
    SPTAN1 99.97 1
    UBAP1 99.96 1
    VLDLR 99.93 1
    ABCB7 98.62 1
    ABCD1 99.78 1
    AIFM1 99.43 1
    AP1S2 97.43 1
    ATP2B3 99.82 1
    CASK 99.40 1
    L1CAM 99.90 1
    PLP1 99.93 1
  • Intellectual disability (>1360 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1
  • Multiple osteochondromas (2 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    EXT1
    EXT2
  • Myopathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD5 99.64 1
    ACAD9 99.97 1
    ACADM 99.64 1
    ACADS 100.00 1
    ACADVL 99.94 1
    ACTA1 99.99 1
    ACTN2 99.96 1
    ADSS1 99.99 1
    AGK 99.98 1
    AGL 99.92 1
    AGRN 99.83 1
    ALDOA 100.00 1
    ALG14 99.97 1
    ALG2 99.95 1
    ANO5 99.96 1
    ANXA11 99.88 1
    ASCC1 91.38 1
    ATP1A2 99.96 1
    ATP2A1 99.97 1
    B3GALNT2 94.03 1
    B4GAT1 99.95 1
    BAG3 100.00 1
    BIN1 100.00 1
    BVES 99.97 1
    CACNA1S 99.92 1
    CAP2 99.97 1
    CAPN3 99.98 1
    CASQ1 99.91 1
    CAV3 99.85 1
    CAVIN1 99.99 1
    CFL2 99.81 1
    CHAT 99.77 1
    CHD7 99.96 1
    CHKB 99.89 1
    CHRNA1 99.96 1
    CHRNB1 99.99 1
    CHRND 100.00 1
    CHRNE 99.95 1
    CHRNG 99.87 1
    CLCN1 99.97 1
    CNBP 99.97 1
    COL12A1 99.95 1
    COL13A1 99.56 1
    COL25A1 99.96 1
    COL6A1 100.00 1
    COL6A2 99.96 1
    COL6A3 99.99 1
    COLQ 99.97 1
    COX6A2 98.51 1
    CPT2 99.99 1
    CRPPA 99.59 1
    CRYAB 99.98 1
    DAG1 100.00 1
    DCST2 99.92 1
    DES 100.00 1
    DGUOK 99.76 1
    DMD 99.41 1
    DMPK 99.98 1
    DNAJB6 99.91 1
    DNM2 99.96 1
    DNMT3B 99.98 1
    DOK7 99.73 1
    DPAGT1 99.96 1
    DPM2 100.00 1
    DPM3 100.00 1
    DYSF 99.99 1
    EMD 97.92 1
    ENO3 99.98 1
    ETFA 99.84 1
    ETFDH 99.76 1
    FAM111B 99.99 1
    FDX2 99.94 1
    FHL1 99.92 1
    FKRP 99.99 1
    FKTN 99.91 1
    FLAD1 100.00 1
    FLNC 99.99 1
    FXR1 99.81 1
    GAA 99.99 1
    GBE1 99.84 1
    GFER 99.96 1
    GFPT1 99.90 1
    GGPS1 99.89 1
    GMPPB 99.95 1
    GNE 99.98 1
    GYG1 99.97 1
    GYS1 99.98 1
    HACD1 99.78 1
    HADH 99.97 1
    HADHA 99.96 1
    HADHB 99.97 1
    HNRNPA1 100.00 1
    HNRNPA2B1 99.95 1
    HNRNPDL 99.92 1
    INPP5K 99.99 1
    ISCU 99.94 1
    ITGA7 99.98 1
    ITGA9 99.80 1
    JAG2 98.50 1
    KBTBD13 100.00 1
    KCNJ2 100.00 1
    KIF21A 99.80 1
    KLHL40 100.00 1
    KLHL41 99.96 1
    KLHL9 100.00 1
    KY 98.80 1
    LAMA2 99.97 1
    LAMB2 99.99 1
    LAMP2 98.98 1
    LARGE1 99.99 1
    LDB3 98.02 1
    LDHA 99.77 1
    LIMS2 99.65 1
    LMNA 99.98 1
    LMOD3 99.96 1
    LPIN1 99.97 1
    LRP4 99.98 1
    MAP3K20 99.92 1
    MATR3 99.87 1
    MB 99.99 1
    MEGF10 99.90 1
    MICU1 99.98 1
    MLIP 99.94 1
    MSTO1 98.87 1
    MTM1 99.36 1
    MUSK 99.97 1
    MYBPC1 99.90 1
    MYBPC3 99.98 1
    MYH14 99.79 1
    MYH2 99.97 1
    MYH3 99.96 1
    MYH7 100.00 1
    MYL1 99.93 1
    MYL2 99.98 1
    MYMX 100.00 1
    MYO18B 99.98 1
    MYO9A 99.91 1
    MYOD1 99.82 1
    MYOT 99.98 1
    MYPN 99.97 1
    NEB 99.77 1
    NPL 99.95 1
    OPA1 99.87 1
    ORAI1 97.73 1
    PABPN1 99.67 1
    PAX7 99.96 1
    PFKM 99.82 1
    PGAM2 100.00 1
    PGK1 99.71 1
    PGM1 99.89 1
    PHKA1 99.57 1
    PHKB 99.79 1
    PHOX2A 96.75 1
    PLEC 99.98 1
    PNPLA2 99.99 1
    PNPLA8 99.81 1
    POGLUT1 99.91 1
    POLG 99.98 1
    POLG2 99.68 1
    POMGNT1 99.98 1
    POMGNT2 100.00 1
    POMK 99.98 1
    POMT1 99.91 1
    POMT2 99.93 1
    POPDC3 99.93 1
    PREPL 99.96 1
    PRKAG2 99.92 1
    PYGM 99.98 1
    PYROXD1 99.83 1
    RAPSN 99.99 1
    RBCK1 99.99 1
    RXYLT1 99.53 1
    RYR1 99.92 1
    SCN4A 99.77 1
    SELENON 95.81 1
    SGCA 99.99 1
    SGCB 99.62 1
    SGCD 99.94 1
    SGCG 99.87 1
    SIL1 99.99 1
    SLC18A3 100.00 1
    SLC22A5 99.99 1
    SLC25A20 99.90 1
    SLC25A4 99.96 1
    SLC5A7 99.97 1
    SMCHD1 99.82 1
    SMPX 99.37 1
    SPEG 99.97 1
    SQSTM1 100.00 1
    STAC3 99.94 1
    STIM1 99.97 1
    SVIL 99.94 1
    SYNE1 99.96 1
    SYNE2 99.85 1
    SYT2 99.89 1
    TCAP 100.00 1
    TIA1 99.56 1
    TK2 99.99 1
    TMEM126B 99.68 1
    TMEM43 99.98 1
    TNNC2 99.95 1
    TNNI2 100.00 1
    TNNT1 99.82 1
    TNNT3 100.00 1
    TNPO3 99.95 1
    TNXB 99.95 1
    TOP3A 99.95 1
    TOR1AIP1 99.84 1
    TPI1 99.95 1
    TPM2 99.93 1
    TPM3 99.95 1
    TRAPPC11 99.59 1
    TRDN 99.03 1
    TRIM32 100.00 1
    TRIP4 99.91 1
    TRMT5 99.83 1
    TTN 99.96 1
    TUBB3 100.00 1
    TWNK 100.00 1
    UNC45B 99.93 1
    VAMP1 99.70 1
    VCP 99.92 1
    VMA21 97.04 1
    VWA1 91.35 1
  • Neuropathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 99.94 1
    ABCA1 99.92 1
    ABHD12 99.11 1
    ADPRS 100.00 1
    AGTPBP1 99.40 1
    AIFM1 99.43 1
    ARHGEF10 100.00 1
    ARSA 100.00 1
    ATL1 99.95 1
    ATL3 99.86 1
    ATM 99.83 1
    ATP1A1 99.94 1
    ATP7A 99.35 1
    B4GALNT1 99.95 1
    BAG3 100.00 1
    BICD2 100.00 1
    BSCL2 100.00 1
    CADM3 99.94 1
    CD59 99.97 1
    CFAP276 99.73 1
    CHCHD10 97.06 1
    CLTCL1 99.98 1
    CNTNAP1 99.80 1
    COA7 100.00 1
    COX20 99.40 1
    COX6A1 99.99 1
    CTDP1 98.02 1
    CTNNB1 99.98 1
    CYP27A1 99.96 1
    DARS2 99.86 1
    DCAF8 99.98 1
    DCTN1 99.95 1
    DGAT2 99.99 1
    DGUOK 99.76 1
    DHTKD1 99.88 1
    DNAJB2 100.00 1
    DNAJC3 99.58 1
    DNM2 99.96 1
    DNMT1 99.88 1
    DRP2 99.45 1
    DST 99.92 1
    DYNC1H1 99.97 1
    EGR2 100.00 1
    ELP1 99.96 1
    ETFDH 99.76 1
    FBLN5 92.79 1
    FBXO38 99.93 1
    FGD4 99.89 1
    FIG4 99.94 1
    FLVCR1 99.93 1
    FXN 97.92 1
    GALC 99.88 1
    GAN 99.84 1
    GARS1 99.86 1
    GBA2 99.97 1
    GBE1 99.84 1
    GBF1 99.95 1
    GDAP1 99.93 1
    GJB1 99.99 1
    GJB3 100.00 1
    GJC2 96.12 1
    GLA 99.64 1
    GNB4 99.95 1
    GSN 97.83 1
    HADHA 99.96 1
    HADHB 99.97 1
    HARS1 99.99 1
    HINT1 99.96 1
    HK1 96.86 1
    HNRNPA1 100.00 1
    HOXD10 100.00 1
    HSPB1 99.83 1
    HSPB3 100.00 1
    HSPB8 99.90 1
    IARS2 99.96 1
    IFRD1 99.96 1
    IGHMBP2 99.99 1
    INF2 97.15 1
    ITPR3 99.88 1
    JAG1 99.92 1
    KIF1A 99.96 1
    KIF5A 99.93 1
    LITAF 100.00 1
    LMNA 99.98 1
    LRSAM1 99.97 1
    LYST 99.92 1
    MCM3AP 99.96 1
    MFN2 99.96 1
    MMACHC 99.99 1
    MME 97.69 1
    MORC2 99.98 1
    MPV17 100.00 1
    MPZ 99.97 1
    MTMR2 99.98 1
    MTRFR 99.85 1
    MYH14 99.79 1
    NAGA 99.99 1
    NAGLU 98.00 1
    NARS1 99.74 1
    NDRG1 100.00 1
    NEFH 98.77 1
    NEFL 99.99 1
    NGF 99.99 1
    NTRK1 99.67 1
    PCYT2 97.60 1
    PDK3 98.86 1
    PEX7 99.87 1
    PHYH 99.65 1
    PIEZO2 99.88 1
    PLD3 99.99 1
    PLEKHG5 99.66 1
    PLP1 99.93 1
    PMM2 99.94 1
    PMP2 99.95 1
    PMP22 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    POLG 99.98 1
    POLR3B 99.88 1
    PPOX 99.94 1
    PRDM12 99.60 1
    PRKCG 99.90 1
    PRNP 100.00 1
    PRPS1 99.79 1
    PRX 99.94 1
    PTEN 99.15 1
    PTPN11 99.91 1
    PTRH2 99.97 1
    RAB7A 99.94 1
    REEP1 99.99 1
    RETREG1 99.92 1
    RFC1 99.44 1
    SACS 99.98 1
    SBF1 99.97 1
    SBF2 99.92 1
    SCARB2 99.94 1
    SCN10A 99.97 1
    SCN11A 99.77 1
    SCN9A 99.96 1
    SCO2 100.00 1
    SCYL1 99.64 1
    SEPTIN9 99.94 1
    SETX 99.96 1
    SH3TC2 99.98 1
    SIGMAR1 99.99 1
    SLC12A6 99.88 1
    SLC25A19 99.99 1
    SLC25A46 99.93 1
    SLC52A2 100.00 1
    SLC52A3 100.00 1
    SLC5A7 99.97 1
    SORD 92.86 1
    SOX10 100.00 1
    SPAST 99.83 1
    SPG11 99.94 1
    SPG7 99.99 1
    SPTAN1 99.97 1
    SPTBN4 99.19 1
    SPTLC1 99.98 1
    SPTLC2 99.94 1
    SPTLC3 99.94 1
    SURF1 97.64 1
    SYT2 99.89 1
    TBCE 99.69 1
    TBCK 99.76 1
    TECPR2 99.90 1
    TFG 99.34 1
    TRIM2 99.99 1
    TRPV4 99.96 1
    TTPA 99.97 1
    TTR 100.00 1
    TUBB3 100.00 1
    TWNK 100.00 1
    UCHL1 99.99 1
    VAPB 99.94 1
    VCP 99.92 1
    VPS13A 99.60 1
    VRK1 99.94 1
    VWA1 91.35 1
    WARS1 99.79 1
    WNK1 99.94 1
    XRCC1 99.94 1
    YARS1 99.96 1
    ZFHX2 99.98 1
    ZFYVE26 99.96 1
  • Obesitas (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY3 99.96 1
    BDNF 100.00 1
    LEP 99.97 1
    LEPR 96.36 1
    MC3R 100.00 1
    MC4R 99.98 1
    NR0B2 99.99 1
    NTRK2 99.99 1
    PCSK1 99.99 1
    POMC 100.00 1
    SIM1 99.97 1
    UCP3 99.98 1
  • Perrault syndrome (5 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    TWNK
    CLPP
    HARS2
    HSD17B4
    LARS2
  • Primary Electrical disorders/Brugada syndrome (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB4 100.00 0
    ABCC9 100.00 0
    ACTN2 100.00 0
    AKAP9 100.00 0
    ANK2 100.00 0
    CACNA1C 100.00 0
    CACNA2D1 100.00 0
    CACNB2 100.00 0
    CALM1 100.00 0
    CALM2 100.00 0
    CALM3 100.00 0
    CASQ2 100.00 0
    CAV3 100.00 0
    CTNNA3 100.00 0
    DES 100.00 0
    DPP6 100.00 0
    DSC2 100.00 0
    DSG2 100.00 0
    DSP 100.00 0
    GJA1 100.00 0
    GJA5 100.00 0
    GNB5 100.00 0
    GPD1L 100.00 0
    HCN4 100.00 0
    JUP 100.00 0
    KCNA5 100.00 0
    KCND3 100.00 0
    KCNE1 100.00 0
    KCNE2 100.00 0
    KCNE3 100.00 0
    KCNE5 100.00 0
    KCNH2 100.00 0
    KCNJ2 100.00 0
    KCNJ5 100.00 0
    KCNJ8 100.00 0
    KCNK17 100.00 0
    KCNQ1 100.00 0
    LMNA 100.00 0
    NKX2-5 100.00 0
    NOS1AP 100.00 0
    NPPA 100.00 0
    PKP2 100.00 0
    PLN 100.00 0
    PPA2 100.00 0
    PRKAG2 100.00 0
    RANGRF 100.00 0
    RRAD 100.00 0
    RYR2 100.00 0
    SCN1B 100.00 0
    SCN2B 100.00 0
    SCN3B 100.00 0
    SCN4B 100.00 0
    SCN5A 100.00 0
    SCN10A 100.00 0
    SLMAP 100.00 0
    SNTA1 100.00 0
    TGFB3 100.00 0
    TMEM43 100.00 0
    TRDN 100.00 0
    TRPM4 100.00 0
    CDH2 100.00 0
    CLCA2 100.00 0
    FLNC 100.00 0
    GNB2 100.00 0
    MYL3 100.00 0
    MYL4 100.00 0
    RBM20 100.00 0
    RNF207 100.00 0
    SLC4A3 100.00 0
    TANGO2 100.00 0
    TECRL 100.00 0
    TNNI3K 100.00 0
    TTN 100.00 0
  • Rare epilepsy with developmental delay (> 240 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 No comment
    ABAT 100.00 0 No comment
    ACTB 99.92 0 No comment
    ACTG1 100.00 0 No comment
    ACTL6B 99.16 0 No comment
    ACY1 99.96 0 No comment
    ADAR 99.99 0 No comment
    ADPRS 91.11 0 No comment
    ADSL 99.73 0 No comment
    AFG3L2 95.23 0 No comment
    ALDH7A1 99.83 0 No comment
    ALG11 100.00 0 No comment
    ALG13 95.29 0 No comment
    AMT 100.00 0 No comment
    ANKRD11 99.99 0 No comment
    AP3B2 97.74 0 No comment
    AP4S1 87.73 0 No comment
    ARFGEF2 99.81 0 No comment
    ARHGEF9 99.89 0 No comment
    ARID1B 87.88 0 No comment
    ARV1 89.03 0 No comment
    ARX 59.32 0 No comment
    ASXL3 99.74 0 No comment
    ATN1 99.12 0 No comment
    ATP1A2 99.88 0 No comment
    ATP1A3 99.81 0 No comment
    BRAT1 99.96 0 No comment
    BSCL2 100.00 0 No comment
    CACNA1A 92.18 0 No comment
    CACNA1B 93.35 0 No comment
    CACNA1E 99.99 0 No comment
    CACNA1G 99.63 0 No comment
    CACNA2D2 94.11 0 No comment
    CASK 99.78 0 No comment
    CDK13 88.47 0 No comment
    CDKL5 97.71 0 No comment
    CERS1 76.68 0 No comment
    CERT1 99.89 0 No comment
    CHD2 99.95 0 No comment
    CLCN4 99.94 0 No comment
    CLN3 99.98 0 No comment
    CLN5 97.84 0 No comment
    CLN6 91.00 0 No comment
    CLN8 100.00 0 No comment
    CLTC 100.00 0 No comment
    CNKSR2 99.28 0 No comment
    CNTNAP2 99.99 0 No comment
    COL18A1 96.27 0 No comment
    COL4A1 98.54 0 No comment
    CPLX1 99.70 0 No comment
    CPT2 97.07 0 No comment
    CSNK2B 100.00 0 No comment
    CSTB 92.54 0 No comment
    CTSD 97.90 0 No comment
    CUX2 98.72 0 No comment
    CYFIP2 99.99 0 No comment
    DCX 99.86 0 No comment
    DDX3X 99.66 0 No comment
    DENND5A 98.99 0 No comment
    DEPDC5 99.97 0 No comment
    DHDDS 99.77 0 No comment
    DMXL2 99.86 0 No comment
    DNM1 94.54 0 No comment
    DNM1L 99.97 0 No comment
    DOCK7 99.35 0 No comment
    DYRK1A 100.00 0 No comment
    EEF1A2 91.59 0 No comment
    EHMT1 98.44 0 No comment
    EPM2A 81.75 0 No comment
    FARS2 99.99 0 No comment
    FGF12 100.00 0 No comment
    FLNA 99.50 0 No comment
    FMN2 92.71 0 No comment
    FMR1 99.71 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 75.13 0 No comment
    FRRS1L 69.11 0 No comment
    FZR1 100.00 0 No comment
    GABBR2 95.14 0 No comment
    GABRA1 100.00 0 No comment
    GABRA2 100.00 0 No comment
    GABRB1 100.00 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 98.87 0 No comment
    GABRG2 92.15 0 No comment
    GAD1 100.00 0 No comment
    GAMT 95.00 0 No comment
    GBA1 100.00 0 No comment
    GLDC 96.06 0 No comment
    GNAO1 100.00 0 No comment
    GNB1 100.00 0 No comment
    GNB5 99.70 0 No comment
    GOSR2 99.87 0 No comment
    GPHN 100.00 0 No comment
    GRIA2 100.00 0 No comment
    GRIA3 97.93 0 No comment
    GRIK2 99.97 0 No comment
    GRIN1 99.74 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRIN2D 61.45 0 No comment
    HCN1 93.52 0 No comment
    HECW2 99.99 0 No comment
    HNRNPU 95.95 0 No comment
    HUWE1 99.62 0 No comment
    IER3IP1 99.80 0 No comment
    IFIH1 99.99 0 No comment
    IQSEC2 91.31 0 No comment
    IRF2BPL 91.18 0 No comment
    ITPA 100.00 0 No comment
    KANSL1 99.98 0 No comment
    KARS1 99.99 0 No comment
    KCNA1 100.00 0 No comment
    KCNA2 100.00 0 No comment
    KCNB1 99.01 0 No comment
    KCNC1 99.52 0 No comment
    KCNH1 99.96 0 No comment
    KCNJ10 100.00 0 No comment
    KCNK4 96.68 0 No comment
    KCNMA1 99.92 0 No comment
    KCNQ2 98.57 0 No comment
    KCNQ3 95.56 0 No comment
    KCNQ5 94.69 0 No comment
    KCNT1 97.66 0 No comment
    KCNT2 100.00 0 No comment
    KCTD7 97.74 0 No comment
    KDM5C 99.69 0 No comment
    KIF1A 99.96 0 No comment
    KIF2A 99.83 0 No comment
    KIF5C 99.91 0 No comment
    KMT2E 99.89 0 No comment
    MAP1B 99.93 0 No comment
    MBD5 100.00 0 No comment
    MECP2 91.83 0 No comment
    MED13L 99.94 0 No comment
    MEF2C 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MOCS1 97.59 0 No comment
    MOCS2 100.00 0 No comment
    MTOR 99.89 0 No comment
    NARS2 99.98 0 No comment
    NBEA 98.89 0 No comment
    NEU1 100.00 0 No comment
    NEXMIF 99.96 0 No comment
    NF1 99.55 0 No comment
    NF2 99.93 0 No comment
    NHLRC1 99.28 0 No comment
    NIPA1 84.21 0 No comment
    NPRL2 100.00 0 No comment
    NPRL3 100.00 0 No comment
    NRXN1 98.90 0 No comment
    NTRK2 100.00 0 No comment
    NUS1 98.46 0 No comment
    OTUD6B 99.73 0 No comment
    PACS2 96.45 0 No comment
    PAFAH1B1 100.00 0 No comment
    PARS2 100.00 0 No comment
    PCDH19 99.80 0 No comment
    PHACTR1 97.55 0 No comment
    PIGA 99.89 0 No comment
    PIGN 99.84 0 No comment
    PIGQ 100.00 0 No comment
    PIGS 100.00 0 No comment
    PIGT 100.00 0 No comment
    PLCB1 99.97 0 No comment
    PLPBP 99.57 0 No comment
    PNKP 99.98 0 No comment
    PNPO 99.98 0 No comment
    POLG 99.86 0 No comment
    PPP2R5D 99.94 0 No comment
    PPP3CA 99.93 0 No comment
    PPT1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRRT2 100.00 0 No comment
    PTEN 92.28 0 No comment
    PURA 85.06 0 No comment
    QARS1 100.00 0 No comment
    RELN 99.97 0 No comment
    RHOBTB2 99.98 0 No comment
    RNASEH2A 99.99 0 No comment
    RNASEH2B 93.70 0 No comment
    RNASEH2C 95.34 0 No comment
    ROGDI 94.47 0 No comment
    RORA 97.11 0 No comment
    RORB 100.00 0 No comment
    RTN4IP1 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SCARB2 100.00 0 No comment
    SCN1A 99.91 0 No comment
    SCN1B 95.75 0 No comment
    SCN2A 100.00 0 No comment
    SCN3A 100.00 0 No comment
    SCN8A 99.95 0 No comment
    SERPINI1 99.98 0 No comment
    SETD2 99.95 0 No comment
    SIK1 99.98 0 No comment
    SLC12A5 99.55 0 No comment
    SLC13A5 99.89 0 No comment
    SLC19A3 100.00 0 No comment
    SLC1A2 99.99 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A22 99.88 0 No comment
    SLC2A1 99.27 0 No comment
    SLC35A2 99.82 0 No comment
    SLC35A3 99.97 0 No comment
    SLC6A1 99.93 0 No comment
    SLC6A8 91.78 0 No comment
    SLC9A6 94.23 0 No comment
    SMARCA2 97.46 0 No comment
    SMC1A 99.50 0 No comment
    SNAP25 100.00 0 No comment
    AFG2A 100.00 0 No comment
    SPTAN1 99.98 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 93.40 0 No comment
    STAG1 99.98 0 No comment
    STX1B 99.89 0 No comment
    STXBP1 100.00 0 No comment
    SYN1 75.34 0 No comment
    SYNGAP1 98.18 0 No comment
    SYNJ1 99.27 0 No comment
    SZT2 99.94 0 No comment
    TANC2 100.00 0 No comment
    TBC1D24 99.73 0 No comment
    TBCD 96.99 0 No comment
    TCF4 99.90 0 No comment
    TK2 85.99 0 No comment
    ACD 99.86 0 No comment
    TRAK1 99.99 0 No comment
    TRAPPC6B 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRIT1 99.98 0 No comment
    TSC1 99.97 0 No comment
    TSC2 99.99 0 No comment
    TUBA1A 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    UBA5 99.97 0 No comment
    UBE3A 99.97 0 No comment
    UFC1 99.91 0 No comment
    UGDH 99.96 0 No comment
    VARS1 100.00 0 No comment
    VARS2 100.00 0 No comment
    WDR26 99.78 0 No comment
    WDR45 99.67 0 No comment
    WWOX 100.00 0 No comment
    YWHAG 100.00 0 No comment
    ZBTB18 99.11 0 No comment
    ZEB2 99.91 0 No comment
    ZNHIT3 74.73 0 No comment
  • Skeletal dysplasia (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALPL 100.00 1
    ALX3 100.00 1
    ARID1A 99.99 1
    B3GALT6 92.42 1
    CDC73 99.98 1
    COL11A1 99.99 1
    COL9A2 100.00 1
    CTSK 100.00 1
    DDR2 100.00 1
    DHCR24 100.00 1
    DVL1 100.00 1
    FAM20B 100.00 1
    FUCA1 100.00 1
    GNAI3 99.99 1
    GNPAT 99.96 1
    GORAB 99.99 1
    HHAT 100.00 1
    HS2ST1 99.93 1
    HSPG2 99.99 1
    IARS2 100.00 1
    LBR 99.99 1
    LMNA 100.00 1
    NLRP3 100.00 1
    NMNAT1 95.03 1
    NOTCH2 100.00 1
    NRAS 99.97 1
    ORC1 100.00 1
    P3H1 100.00 1
    PHGDH 100.00 1
    PIGV 100.00 1
    PLOD1 100.00 1
    POLR3GL 100.00 1
    PRKACB 100.00 1
    PRRX1 100.00 1
    RBM8A 100.00 1
    SDCCAG8 99.99 1
    SF3B4 100.00 1
    SKI 100.00 1
    SLC25A24 99.30 1
    SLC35D1 99.68 1
    TBCE 100.00 1
    TBX15 100.00 1
    TGFB2 100.00 1
    TMCO1 99.91 1
    TMEM53 100.00 1
    ZMPSTE24 99.99 1
    CHST3 100.00 1
    DNA2 99.99 1
    FBXW4 98.98 1
    FGFR2 100.00 1
    KAT6B 100.00 1
    KIF5B 99.93 1
    PAPSS2 99.93 1
    POLR3A 100.00 1
    SLC29A3 100.00 1
    SMC3 99.98 1
    TCTN3 100.00 1
    ALG9 94.06 1
    ALX4 100.00 1
    ANO5 100.00 1
    ARCN1 100.00 1
    B3GAT3 94.88 1
    BANF1 100.00 1
    BBS1 100.00 1
    C2CD3 99.99 1
    CDKN1C 100.00 1
    CREB3L1 100.00 1
    CYP2R1 98.84 1
    DPAGT1 100.00 1
    DYNC2H1 99.84 1
    EED 100.00 1
    EXT2 100.00 1
    FAM111A 100.00 1
    FAR1 99.98 1
    FERMT3 100.00 1
    HRAS 100.00 1
    IFITM5 100.00 1
    INPPL1 99.93 1
    LRP4 100.00 1
    LRP5 100.00 1
    LTBP3 100.00 1
    MMP13 99.99 1
    NADSYN1 100.00 1
    PIK3C2A 99.99 1
    PLCB3 100.00 1
    RASGRP2 100.00 1
    SERPINH1 100.00 1
    SLC39A13 100.00 1
    TCIRG1 100.00 1
    TMEM138 100.00 1
    TMEM216 100.00 1
    ABCC9 99.99 1
    ALX1 100.00 1
    ATP6V0A2 100.00 1
    BBS10 100.00 1
    CEP290 99.84 1
    CHST11 100.00 1
    COL2A1 100.00 1
    CYP27B1 100.00 1
    FGF23 100.00 1
    GDF3 100.00 1
    GNPTAB 100.00 1
    GNS 100.00 1
    IFT81 94.63 1
    LEMD3 100.00 1
    MAPKAPK5 100.00 1
    MGP 100.00 1
    PDE3A 100.00 1
    PEX5 100.00 1
    POLE 100.00 1
    POLR3B 99.98 1
    PTHLH 100.00 1
    PTPN11 99.98 1
    RFLNA 99.50 1
    SP7 100.00 1
    TBX3 100.00 1
    TBX5 100.00 1
    TCTN1 94.52 1
    TCTN2 99.95 1
    TRPV4 100.00 1
    VDR 99.44 1
    VPS33A 95.74 1
    WNT1 100.00 1
    WNT10B 100.00 1
    FGF9 99.98 1
    GPC6 100.00 1
    KL 98.69 1
    POLR1D 99.94 1
    TGDS 99.99 1
    TNFSF11 100.00 1
    AKT1 100.00 1
    GNPNAT1 99.99 1
    GSC 100.00 1
    IFT43 100.00 1
    KIAA0586 95.70 1
    LTBP2 100.00 1
    MMP14 100.00 1
    SEC23A 99.98 1
    SIX1 100.00 1
    SMOC1 100.00 1
    SRP54 99.97 1
    TGFB3 100.00 1
    LYSET 100.00 1
    TRIP11 99.98 1
    TTC8 99.96 1
    ACAN 98.67 1
    ADAMTS17 98.97 1
    BBS4 100.00 1
    CEP152 99.99 1
    CHST14 99.49 1
    CHSY1 99.98 1
    DLL4 100.00 1
    EFL1 100.00 1
    FBN1 100.00 1
    FMN1 100.00 1
    GREM1 100.00 1
    IDH2 99.93 1
    KIF7 99.98 1
    LRRK1 100.00 1
    MAP2K1 100.00 1
    MESD 100.00 1
    MESP2 100.00 1
    PPIB 100.00 1
    SMAD3 100.00 1
    SMAD6 100.00 1
    TCF12 100.00 1
    ANKRD11 100.00 1
    BBS2 100.00 1
    CBFB 100.00 1
    CDH3 100.00 1
    CDK10 100.00 1
    CDT1 99.07 1
    CLCN7 99.78 1
    COG4 100.00 1
    CREBBP 100.00 1
    DHODH 100.00 1
    GALNS 100.00 1
    GINS2 100.00 1
    GNPTG 99.45 1
    IFT140 100.00 1
    KIF22 100.00 1
    MBTPS1 100.00 1
    MMP2 100.00 1
    ORC6 99.99 1
    PAM16 100.00 1
    PRMT7 99.99 1
    RPGRIP1L 98.82 1
    RPL13 100.00 1
    RSPRY1 100.00 1
    SALL1 100.00 1
    TBC1D24 100.00 1
    TBX6 100.00 1
    TMEM231 100.00 1
    TRAF7 100.00 1
    VAC14 100.00 1
    XYLT1 98.81 1
    ACTG1 100.00 1
    BHLHA9 99.55 1
    CANT1 99.97 1
    CDC6 100.00 1
    COG1 100.00 1
    COL1A1 100.00 1
    DLX3 100.00 1
    EFTUD2 100.00 1
    EIF4A3 99.99 1
    FKBP10 100.00 1
    FZD2 100.00 1
    HES7 100.00 1
    KCNJ2 100.00 1
    KIAA0753 100.00 1
    MEOX1 100.00 1
    MKS1 100.00 1
    MYH3 100.00 1
    NAGLU 99.96 1
    NF1 99.98 1
    NOG 100.00 1
    NXN 100.00 1
    P4HB 100.00 1
    PLEKHM1 100.00 1
    PRKAR1A 100.00 1
    PYCR1 100.00 1
    SERPINF1 100.00 1
    SGSH 100.00 1
    SMARCE1 99.97 1
    SOST 100.00 1
    SOX9 100.00 1
    SUZ12 99.97 1
    TBX4 99.45 1
    WNT3 100.00 1
    XYLT2 100.00 1
    DYM 99.99 1
    LPIN2 99.99 1
    RBBP8 99.96 1
    SMAD2 100.00 1
    SMAD4 100.00 1
    SMCHD1 99.97 1
    TNFRSF11A 97.91 1
    ACP5 100.00 1
    ADAMTS10 100.00 1
    AKT2 100.00 1
    APC2 99.99 1
    B9D2 100.00 1
    CCDC8 100.00 1
    COMP 100.00 1
    DLL3 99.85 1
    DOCK6 100.00 1
    EPS15L1 100.00 1
    ERF 100.00 1
    FUZ 100.00 1
    GPX4 96.50 1
    LONP1 100.00 1
    MAN2B1 100.00 1
    MEGF8 99.96 1
    NFIX 99.97 1
    PRKACA 100.00 1
    SMARCA4 100.00 1
    TGFB1 100.00 1
    TYROBP 100.00 1
    UBA2 99.97 1
    ACVR1 100.00 1
    AFF3 100.00 1
    AGPS 99.76 1
    ANAPC1 99.82 1
    ARHGAP25 100.00 1
    BBS5 99.97 1
    CKAP2L 100.00 1
    COLEC11 100.00 1
    CRIPT 100.00 1
    CYP26B1 100.00 1
    DNMT3A 100.00 1
    DYNC2LI1 100.00 1
    EIF2AK3 99.96 1
    EN1 100.00 1
    EXOC6B 99.77 1
    FN1 100.00 1
    FOSL2 100.00 1
    GALNT3 99.99 1
    GLI2 100.00 1
    HAAO 100.00 1
    HDAC4 100.00 1
    HOXD13 100.00 1
    IDH1 100.00 1
    IFIH1 99.99 1
    IFT172 100.00 1
    IHH 100.00 1
    IL1RN 100.00 1
    KYNU 99.99 1
    LTBP1 100.00 1
    MAP3K20 100.00 1
    MATN3 99.95 1
    MTX2 99.95 1
    MYCN 99.97 1
    NBAS 100.00 1
    NPPC 100.00 1
    OBSL1 99.99 1
    ORC4 100.00 1
    PAX3 100.00 1
    PKDCC 99.76 1
    POLR1A 100.00 1
    POLR1B 100.00 1
    SIX2 100.00 1
    SMARCAL1 100.00 1
    TMEM237 99.98 1
    TRAF3IP1 100.00 1
    TTC21B 99.97 1
    WDPCP 91.91 1
    WDR35 99.99 1
    WNT6 100.00 1
    ASXL1 100.00 1
    BMP2 99.98 1
    COL9A3 100.00 1
    CTSA 100.00 1
    DDRGK1 100.00 1
    DPM1 97.07 1
    ELMO2 100.00 1
    GDF5 100.00 1
    GNAS 100.00 1
    GZF1 100.00 1
    IFT52 100.00 1
    LAMA5 99.87 1
    MAFB 100.00 1
    MKKS 99.98 1
    MMP9 100.00 1
    PLCB4 100.00 1
    SALL4 100.00 1
    SNRPB 100.00 1
    CFAP410 100.00 1
    DONSON 99.81 1
    PCNT 100.00 1
    ALG12 100.00 1
    CCDC134 100.00 1
    CDC45 100.00 1
    EP300 100.00 1
    FBLN1 99.89 1
    MCM5 100.00 1
    MYO18B 100.00 1
    PISD 100.00 1
    SMARCB1 100.00 1
    SPECC1L 100.00 1
    ALG3 100.00 1
    ARHGAP31 100.00 1
    ARL6 100.00 1
    ATR 99.98 1
    CASR 100.00 1
    COPB2 100.00 1
    CRTAP 99.90 1
    DVL3 100.00 1
    DYNLT2B 100.00 1
    EOGT 99.99 1
    FLNB 100.00 1
    GLB1 100.00 1
    HYAL1 100.00 1
    IFT122 100.00 1
    IFT80 99.94 1
    LMOD3 100.00 1
    MASP1 100.00 1
    MECOM 100.00 1
    NEPRO 99.99 1
    PCYT1A 100.00 1
    PIK3CA 99.97 1
    PLOD2 99.95 1
    POC1A 100.00 1
    PTH1R 100.00 1
    SETD2 99.99 1
    SLCO2A1 100.00 1
    SUMF1 100.00 1
    TGFBR2 100.00 1
    THPO 100.00 1
    TOP2B 99.85 1
    TP63 99.99 1
    TRAIP 100.00 1
    WNT5A 100.00 1
    WNT7A 100.00 1
    ZIC1 100.00 1
    AGA 100.00 1
    ANTXR2 100.00 1
    BBS12 100.00 1
    BBS7 99.97 1
    BMPR1B 100.00 1
    CC2D2A 98.21 1
    CENPE 99.92 1
    DMP1 100.00 1
    DSPP 100.00 1
    EDNRA 100.00 1
    EVC 96.08 1
    EVC2 100.00 1
    FGFR3 100.00 1
    HPGD 99.99 1
    IDUA 99.84 1
    INTU 100.00 1
    MAB21L2 100.00 1
    MANBA 99.99 1
    NEK1 99.99 1
    NKX3-2 100.00 1
    PRKG2 99.98 1
    RAB33B 100.00 1
    RBPJ 100.00 1
    SEC24D 100.00 1
    SGMS2 100.00 1
    SH3BP2 98.03 1
    SLC10A7 100.00 1
    TAPT1 98.76 1
    TMEM165 99.97 1
    UFSP2 99.99 1
    WDR19 99.94 1
    ANKH 100.00 1
    ARSB 99.92 1
    ARSK 99.98 1
    B4GALT7 99.95 1
    BNIP1 100.00 1
    CEP120 99.96 1
    CPLANE1 99.97 1
    CSF1R 100.00 1
    DNAJC21 100.00 1
    FBN2 99.99 1
    FGF10 100.00 1
    HSPA9 100.00 1
    IL6ST 99.99 1
    KIAA0825 99.99 1
    LIFR 99.94 1
    MSX2 100.00 1
    NIPBL 99.91 1
    NPR3 100.00 1
    NSD1 100.00 1
    PDE4D 99.99 1
    PDGFRB 100.00 1
    PITX1 100.00 1
    SH3PXD2B 100.00 1
    SLC26A2 100.00 1
    SPARC 100.00 1
    SQSTM1 100.00 1
    TCOF1 100.00 1
    XRCC4 100.00 1
    ZSWIM6 97.48 1
    ARID1B 99.51 1
    CCN6 100.00 1
    CILK1 99.92 1
    COL10A1 100.00 1
    COL11A2 100.00 1
    COL9A1 99.99 1
    CUL7 100.00 1
    DSE 99.66 1
    EDN1 100.00 1
    ENPP1 99.27 1
    FIG4 100.00 1
    FOXC1 99.89 1
    GCM2 100.00 1
    GJA1 100.00 1
    GMNN 99.99 1
    ID4 97.95 1
    MAP3K7 100.00 1
    MCM3 100.00 1
    NEU1 100.00 1
    OSTM1 99.96 1
    PEX7 100.00 1
    PGM3 100.00 1
    POLR1C 97.57 1
    RAB23 100.00 1
    RIPPLY2 99.85 1
    RUNX2 100.00 1
    SCUBE3 100.00 1
    SLC17A5 99.99 1
    SLC35B2 100.00 1
    TAB2 100.00 1
    TENT5A 100.00 1
    TFAP2B 100.00 1
    TREM2 100.00 1
    ACTB 100.00 1
    BBS9 99.96 1
    BMPER 100.00 1
    COL1A2 100.00 1
    CYP3A4 99.94 1
    DLX5 100.00 1
    DLX6 100.00 1
    DYNC2I1 96.68 1
    EZH2 99.98 1
    FAM20C 99.99 1
    FKBP14 99.95 1
    GLI3 100.00 1
    GUSB 100.00 1
    HOXA11 100.00 1
    HOXA13 96.84 1
    KDELR2 100.00 1
    LFNG 94.20 1
    LMBR1 99.96 1
    MCM7 100.00 1
    MET 100.00 1
    MNX1 87.84 1
    POR 100.00 1
    RINT1 99.95 1
    SBDS 100.00 1
    SFRP4 100.00 1
    SHH 100.00 1
    SLC4A2 100.00 1
    SMO 99.99 1
    SNX10 99.97 1
    TBXAS1 99.99 1
    TRPV6 99.41 1
    TWIST1 100.00 1
    ASAH1 99.99 1
    BMP1 100.00 1
    BPNT2 100.00 1
    CA2 100.00 1
    COLEC10 100.00 1
    CSGALNACT1 100.00 1
    CSPP1 99.99 1
    ESCO2 99.74 1
    EXT1 100.00 1
    EXTL3 100.00 1
    FGFR1 100.00 1
    GDF6 99.99 1
    HGSNAT 96.79 1
    NSMCE2 100.00 1
    POP1 100.00 1
    PTDSS1 100.00 1
    RAD21 100.00 1
    RECQL4 99.80 1
    RSPO2 100.00 1
    SLCO5A1 100.00 1
    SULF1 100.00 1
    TMEM67 99.30 1
    TNFRSF11B 100.00 1
    TONSL 100.00 1
    TRPS1 100.00 1
    ABL1 100.00 1
    ADAMTSL2 100.00 1
    COL27A1 100.00 1
    RIGI 99.97 1
    DYNC2I2 100.00 1
    HNRNPK 100.00 1
    IL11RA 100.00 1
    LMX1B 100.00 1
    MTAP 100.00 1
    NANS 100.00 1
    NOTCH1 100.00 1
    NPR2 100.00 1
    ROR2 99.98 1
    SLC34A3 100.00 1
    TGFBR1 100.00 1
    TMEM38B 100.00 1
    TRIM32 100.00 1
    VCP 100.00 1
    ZNF462 100.00 1
    AIFM1 100.00 1
    AMER1 100.00 1
    ARSL 100.00 1
    ATP7A 100.00 1
    BGN 100.00 1
    CCNQ 99.81 1
    CLCN5 100.00 1
    EBP 100.00 1
    EFNB1 100.00 1
    FANCB 100.00 1
    FGD1 100.00 1
    FGF16 100.00 1
    FLNA 100.00 1
    GPC3 100.00 1
    GPC4 100.00 1
    HDAC8 100.00 1
    IDS 100.00 1
    IKBKG 100.00 1
    MBTPS2 100.00 1
    MID1 100.00 1
    NSDHL 100.00 1
    OFD1 100.00 1
    PHEX 99.99 1
    PLS3 100.00 1
    PORCN 100.00 1
    SHOX 94.83 1
    SMC1A 100.00 1
    SMS 100.00 1
    TRAPPC2 100.00 1
    ZIC3 100.00 1
  • Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATXN8
    ATXN10
    PPP2R2B
    TBP
  • Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATXN1
    ATXN2
    ATXN3
    CACNA1A
    ATXN7
  • Stickler syndrome (4 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    COL11A1
    COL2A1
    COL9A1
    COL9A2
  • Treacher Collins (3 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    POLR1C
    POLR1D
    TCOF1
  • Usher syndrome (10 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CDH23
    CLRN1
    WHRN
    ADGRV1
    MYO7A
    PCDH15
    PDZD7
    USH1C
    USH1G
    USH2A
  • Waardenburg syndrome (6 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    EDN3
    EDNRB
    PAX3
    SNAI2
    SOX10
    MITF