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  2. Meckel syndrome

Meckel syndrome

Disease Export to PDF
Name:
Meckel syndrome
Description:
A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
ORPHAcode:
564
Synonyms:
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
XREF(s):
Orphanet
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
ICD-10
Analyte(s):
TXNDC15
TMEM107
TCTN1
TMEM237
RPGRIP1
CEP290
TMEM67
MKS1
RPGRIP1L
CC2D2A
TMEM216
TCTN3
TCTN2
B9D1
B9D2
TMEM231
CSPP1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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
  • Cholestasis (40 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB11 100.00 1 Part of Gastro-pneumo panel
    ABCB4 100.00 1 Part of Gastro-pneumo panel
    AKR1D1 100.00 1 Part of Gastro-pneumo panel
    AMACR 100.00 1 Part of Gastro-pneumo panel
    ATP8B1 100.00 1 Part of Gastro-pneumo panel
    BAAT 100.00 1 Part of Gastro-pneumo panel
    BCS1L 100.00 1 Part of Gastro-pneumo panel
    CC2D2A 100.00 1 Part of Gastro-pneumo panel
    CLDN1 100.00 1 Part of Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Gastro-pneumo panel
    CYP7B1 100.00 1 Part of Gastro-pneumo panel
    DCDC2 100.00 1 Part of Gastro-pneumo panel
    DGUOK 100.00 1 Part of Gastro-pneumo panel
    HNF1B 100.00 1 Part of Gastro-pneumo panel
    HSD3B7 100.00 1 Part of Gastro-pneumo panel
    INVS 100.00 1 Part of Gastro-pneumo panel
    JAG1 100.00 1 Part of Gastro-pneumo panel
    MKS1 100.00 1 Part of Gastro-pneumo panel
    MPV17 100.00 1 Part of Gastro-pneumo panel
    NOTCH2 100.00 1 Part of Gastro-pneumo panel
    NPC1 100.00 1 Part of Gastro-pneumo panel
    NPC2 100.00 1 Part of Gastro-pneumo panel
    NPHP1 100.00 1 Part of Gastro-pneumo panel
    NPHP3 100.00 1 Part of Gastro-pneumo panel
    NPHP4 100.00 1 Part of Gastro-pneumo panel
    NR1H4 100.00 1 Part of Gastro-pneumo panel
    PKHD1 100.00 1 Part of Gastro-pneumo panel
    PNPLA3 0.00 1 Part of Gastro-pneumo panel / only rs738409 and rs2294918
    POLG 100.00 1 Part of Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Gastro-pneumo panel
    SMPD1 100.00 1 Part of Gastro-pneumo panel
    TALDO1 100.00 1 Part of Gastro-pneumo panel
    TJP2 100.00 1 Part of Gastro-pneumo panel
    TM6SF2 0.00 1 Part of Gastro-pneumo panel / only rs58542926
    TMC4 0.00 1 Part of Gastro-pneumo panel / only rs641738
    TMEM216 100.00 1 Part of Gastro-pneumo panel
    TRMU 100.00 1 Part of Gastro-pneumo panel
    UGT1A1 100.00 1 Part of Gastro-pneumo panel
    VIPAS39 100.00 1 Part of Gastro-pneumo panel
    VPS33B 100.00 1 Part of Gastro-pneumo panel
  • Ciliopathy (120 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACVR2B 99.99 0
    ADAMTS9 99.94 0
    AHI1 99.86 0
    ALMS1 99.90 0
    ANKS6 100.00 0
    ARL13B 99.53 0
    ARL3 99.98 0
    ARL6 99.90 0
    ARMC9 99.77 0
    B9D1 99.80 0
    B9D2 99.88 0
    BBIP1 99.99 0
    BBS1 100.00 0
    BBS10 99.98 0
    BBS12 100.00 0
    BBS2 99.90 0
    BBS4 99.88 0
    BBS5 99.00 0
    BBS7 99.42 0
    BBS9 99.75 0
    C2CD3 99.88 0
    CBY1 100.00 0
    CC2D2A 99.95 0
    CCDC103 99.68 0
    CCDC172 99.85 0
    CCDC28B 99.99 0
    CCDC32 99.97 0
    CCDC39 99.74 0
    CCDC40 100.00 0
    CCDC65 99.80 0
    CCDC96 100.00 0
    CCNO 100.00 0
    CENPF 99.97 0
    CEP104 99.99 0
    CEP120 99.90 0
    CEP164 99.99 0
    CEP290 98.10 0
    CEP295 99.94 0
    CEP41 99.99 0
    CEP55 99.92 0
    CEP83 98.68 0
    CFAP251 99.98 0
    CFAP298 99.96 0
    CFAP300 99.47 0
    CFAP410 100.00 0
    CFAP418 100.00 0
    CFAP44 99.75 0
    CFAP53 99.95 0
    CFAP69 99.09 0
    CFC1 21.93 0
    CILK1 99.69 0
    CPLANE1 99.81 0
    CRB2 99.95 0
    CSPP1 98.31 0
    DCDC2 99.96 0
    DDX59 99.67 0
    DEUP1 99.86 0
    DHCR7 99.97 0
    DLG5 99.91 0
    DNAAF1 99.99 0
    DNAAF11 99.80 0
    DNAAF2 99.91 0
    DNAAF3 99.99 0
    DNAAF4 99.78 0
    DNAAF5 99.99 0
    DNAAF6 98.73 0
    DNAH1 99.98 0
    DNAH11 99.93 0
    DNAH5 99.98 0
    DNAH8 99.84 0
    DNAI1 99.92 0
    DNAI2 99.86 0
    DNAJB13 99.91 0
    DNAH9 99.79 0
    DRC1 99.93 0
    DYNC2H1 99.66 0
    DYNC2I1 99.99 0
    DYNC2I2 99.98 0
    DYNC2LI1 99.94 0
    DYNLT2B 100.00 0
    EVC 99.95 0
    EVC2 99.97 0
    EXOC3L2 99.88 0
    EXOC6B 99.41 0
    EXOC8 99.99 0
    EXTL3 99.99 0
    FAM149B1 99.69 0
    FAM166B 99.99 0
    FOXF1 99.99 0
    FUZ 99.99 0
    GAS2L2 100.00 0
    GAS8 100.00 0
    GLI3 100.00 0
    GLIS2 100.00 0
    HNF1B 100.00 0
    HYDIN 81.28 0
    HYLS1 100.00 0
    IFT122 99.98 0
    IFT140 100.00 0
    IFT172 99.98 0
    IFT27 100.00 0
    IFT43 99.97 0
    IFT52 99.82 0
    IFT74 99.71 0
    IFT80 99.69 0
    IFT81 94.64 0
    INPP5E 99.85 0
    INTS13 98.20 0
    INTU 99.92 0
    INVS 99.94 0
    IQCB1 99.72 0
    IQCE 99.77 0
    KATNIP 99.13 0
    KCTD3 99.75 0
    KIAA0586 95.75 0
    KIAA0753 100.00 0
    KIF14 97.80 0
    KIF3B 99.99 0
    KIF7 100.00 0
    LBR 99.66 0
    LCA5 99.89 0
    LRRC34 99.52 0
    LRRC45 99.98 0
    LRRC56 99.98 0
    LZTFL1 100.00 0
    MAPKBP1 99.98 0
    MCIDAS 100.00 0
    MKKS 100.00 0
    MKS1 99.92 0
    MMP21 99.99 0
    MRE11 99.93 0
    NCAPG2 99.97 0
    NEK1 99.83 0
    NEK9 99.96 0
    NME5 99.81 0
    NME8 99.83 0
    NPHP1 99.05 0
    NPHP3 99.89 0
    NPHP4 99.98 0
    OCRL 99.89 0
    ODAD1 96.04 0
    ODAD2 98.19 0
    ODAD3 99.96 0
    ODAD4 99.85 0
    OFD1 99.68 0
    PDE6D 99.94 0
    PIBF1 99.90 0
    PIK3C2A 99.92 0
    PKD1 99.98 0
    PKD2 99.91 0
    PKHD1 99.95 0
    PMFBP1 99.89 0
    PMM2 99.93 0
    POC1A 99.98 0
    POC1B 100.00 0
    RAB28 99.97 0
    RPGR 94.45 0
    RPGRIP1L 96.35 0
    RSPH1 99.87 0
    RSPH3 99.94 0
    RSPH4A 99.95 0
    RSPH9 99.99 0
    SBDS 99.93 0
    SCLT1 95.17 0
    SCNM1 99.47 0
    SDCCAG8 100.00 0
    SLC30A7 94.71 0
    SPAG1 99.78 0
    STK36 99.98 0
    SUFU 100.00 0
    TBC1D32 99.75 0
    TCTN1 99.92 0
    TCTN2 99.99 0
    TCTN3 99.92 0
    TMEM107 100.00 0
    TMEM138 100.00 0
    TMEM17 99.96 0
    TMEM216 99.98 0
    TMEM218 99.94 0
    TMEM231 88.88 0
    TMEM237 99.30 0
    TMEM260 99.90 0
    TMEM67 99.69 0
    TOGARAM1 99.93 0
    TOPORS 99.99 0
    TRAF3IP1 99.96 0
    TRIM32 100.00 0
    TTC21B 99.50 0
    TTC23 99.87 0
    TTC26 99.97 0
    TTC6 99.77 0
    TTC8 99.67 0
    TUBGCP4 99.80 0
    TULP1 99.99 0
    TULP3 99.91 0
    TXNDC15 99.78 0
    VHL 100.00 0
    VPS13B 99.90 0
    WDPCP 99.87 0
    WDR19 99.80 0
    WDR35 99.92 0
    XPNPEP3 99.99 0
    ZFYVE19 99.99 0
    ZIC3 99.90 0
    ZMYND10 99.99 0
    ZNF423 98.94 0
    ZSWIM6 98.94 0
  • Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS9 100.00 1 NM_182920.2
    ALG8 100.00 1 NM_024079.5
    ANKS6 100.00 1 NM_173551.5
    ARL6 100.00 1 NM_001278293.3
    BBIP1 100.00 1 NM_001195305.3
    BBS1 100.00 1 NM_024649.5
    BBS10 100.00 1 NM_024685.4
    BBS12 100.00 1 NM_152618.3
    BBS2 100.00 1 NM_031885.5
    BBS4 100.00 1 NM_033028.5
    BBS5 100.00 1 NM_152384.3
    BBS7 100.00 1 NM_176824.3
    BBS9 100.00 1 NM_198428.3
    CDC73 100.00 1 NM_024529.5
    CEP164 100.00 1 NM_014956.5
    CEP290 100.00 1 NM_025114.4
    CEP83 100.00 1 NM_016122.3
    COL4A1 100.00 1 NM_001845.6
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    DCDC2 100.00 1 NM_016356.5
    DNAJB11 100.00 1 NM_016306.6
    DZIP1L 100.00 1 NM_173543.3
    EYA1 100.00 1 NM_000503.6
    FAN1 100.00 1 NM_014967.5
    FH 100.00 1 NM_000143.4
    FLCN 100.00 1 NM_144997.7
    GANAB 100.00 1 NM_198334.3
    GATA3 100.00 1 NM_001002295.2
    GATM 100.00 1 NM_001482.3
    GLIS2 100.00 1 NM_032575.3
    HNF1B 100.00 1 NM_000458.4
    IFT172 100.00 1 NM_015662.3
    IFT27 100.00 1 NM_001177701.3
    INVS 100.00 1 NM_014425.5
    IQCB1 100.00 1 NM_001023570.4
    LRP5 100.00 1 NM_002335.4
    LRP6 100.00 1 NM_002336.3
    LZTFL1 100.00 1 NM_020347.4
    MAPKBP1 100.00 1 NM_014994.3
    MET 100.00 1 NM_000245.4
    MKKS 100.00 1 NM_170784.3
    MKS1 100.00 1 NM_017777.4
    NEK8 100.00 1 NM_178170.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP1 100.00 1 NM_001128178.3
    NPHP3 100.00 1 NM_153240.5
    NPHP4 100.00 1 NM_015102.5
    OFD1 100.00 1 NM_003611.3
    PAX2 100.00 1 NM_000278.5
    PKD1 100.00 1 NM_001009944.3
    PKD2 100.00 1 NM_000297.4
    PKHD1 100.00 1 NM_138694.4
    PMM2 0.00 1 NM_000303.2 une seule position
    PRKCSH 100.00 1 NM_001289104.2
    PTEN 100.00 1 NM_000314.8
    REN 100.00 1 NM_000537.4
    RPGRIP1L 96.00 1 NM_015272.5
    SDCCAG8 100.00 1 NM_006642.5
    SDHB 100.00 1 NM_003000.3
    SDHD 100.00 1 NM_003002.4
    SEC61A1 100.00 1 NM_013336.4
    SEC63 100.00 1 NM_007214.5
    TMEM67 100.00 1 NM_153704.6
    TRIM32 100.00 1 NM_012210.4
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TTC21B 100.00 1 NM_024753.5
    TTC8 100.00 1 NM_144596.4
    UMOD 100.00 1 NM_003361.4
    VHL 100.00 1 NM_000551.4
    WDPCP 100.00 1 NM_015910.7
    WDR19 100.00 1 NM_025132.4
    XPNPEP3 100.00 1 NM_022098.4
    ZNF423 100.00 1 NM_001379286.1
    AHI1 100.00 1 NM_001134831.2
    ALG5 100.00 1 NM_013338.5
    ALG9 100.00 1 NM_024740.2
    ARL13B 100.00 1 NM_001174150.2
    ARL3 100.00 1 NM_004311.4
    ARMC9 100.00 1 NM_001352754.2
    ATXN10 100.00 1 NM_013236.4
    B9D1 100.00 1 NM_015681.6
    B9D2 100.00 1 NM_030578.4
    BAP1 100.00 1 NM_004656.4
    C2CD3 100.00 1 NM_001286577.2
    CC2D2A 100.00 1 NM_001378615.1
    CCDC28B 100.00 1 NM_024296.5
    CEP104 100.00 1 NM_014704.4
    CEP120 100.00 1 NM_001375405.1
    CEP41 100.00 1 NM_018718.3
    CFAP418 100.00 1 NM_177965.4
    CPLANE1 100.00 1 NM_001384732.1
    CSPP1 100.00 1 NM_001382391.1
    CYP24A1 100.00 1 NM_000782.5
    DLG5 100.00 1 NM_004747.4
    DYNC2H1 100.00 1 NM_001377.3
    DYNC2I1 100.00 1 NM_018051.5
    DYNC2I2 100.00 1 NM_052844.4
    DYNC2LI1 100.00 1 NM_016008.4
    DYNLT2B 100.00 1 NM_152773.5
    EVC 100.00 1 NM_153717.3
    EVC2 100.00 1 NM_147127.5
    FAM149B1 100.00 1 NM_173348.2
    HNF1A 100.00 1 NM_000545.8
    HYLS1 100.00 1 NM_001134793.2
    IFT122 100.00 1 NM_052989.3
    IFT140 100.00 1 NM_014714.4
    IFT43 100.00 1 NM_001102564.3
    IFT52 100.00 1 NM_016004.5
    IFT74 100.00 1 NM_025103.4
    IFT80 100.00 1 NM_020800.3
    IFT81 100.00 1 NM_014055.4
    INPP5E 100.00 1 NM_019892.6
    INTU 100.00 1 NM_015693.4
    JAG1 100.00 1 NM_000214.3
    KATNIP 100.00 1 NM_015202.5
    KIAA0586 100.00 1 NM_001329943.3
    KIAA0753 100.00 1 NM_014804.3
    KIF14 100.00 1 NM_014875.3
    KIF7 100.00 1 NM_198525.3
    NEK1 100.00 1 NM_001199397.3
    PARN 100.00 1 NM_002582.4
    PDE6D 100.00 1 NM_002601.4
    PIBF1 100.00 1 NM_006346.4
    POC1B 100.00 1 NM_172240.3
    RNF139 100.00 1 NM_007218.4
    SDHA 100.00 1 NM_004168.4
    SDHC 100.00 1 NM_003001.5
    SEC61B 100.00 1 NM_006808.3
    SLC41A1 100.00 1 NM_173854.6
    SREBF1 100.00 1 NM_004176.5
    SUFU 100.00 1 NM_016169.4
    TCTN1 100.00 1 NM_001082538.3
    TCTN2 100.00 1 NM_024809.5
    TCTN3 100.00 1 NM_015631.6
    TFAP2A 100.00 1 NM_001372066.1
    TMEM107 100.00 1 NM_183065.4
    TMEM138 100.00 1 NM_016464.5
    TMEM216 100.00 1 NM_001173990.3
    TMEM218 100.00 1 NM_001258244.2
    TMEM231 100.00 1 NM_001077418.3
    TMEM237 100.00 1 NM_001044385.3
    TOGARAM1 100.00 1 NM_001308120.2
    TRAF3IP1 100.00 1 NM_015650.4
    TXNDC15 100.00 1 NM_024715.4
    WDR35 100.00 1 NM_020779.4
  • Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACBD5 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ACTB 99.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ACTG1 99.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALG9 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALX1 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALX3 94.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    AMER1 99.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ANKRD11 97.83 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARCN1 95.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARHGAP29 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARHGAP31 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ASXL1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ATR 98.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ATRX 95.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GALT6 73.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GLCT 95.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GAT3 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B4GALT7 93.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BCOR 97.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BMP2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BMP4 98.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BUB1B 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    C2CD3 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CPLANE1 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CANT1 98.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CASK 95.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CC2D2A 98.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDC45 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDH1 96.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDKN1C 84.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHD1 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHD7 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHRNG 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHST14 97.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHSY1 93.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CKAP2L 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL11A1 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL11A2 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL2A1 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A1 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A2 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A3 94.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COLEC10 98.49 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COLEC11 99.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CTCF 98.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CTNND1 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DDX3X 94.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DDX59 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DHCR7 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DHODH 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DIS3L2 98.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLG1 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLL4 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLX4 98.90 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DNMT3B 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DOCK6 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DVL1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DVL3 98.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2H1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2LI1 98.39 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EBP 98.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EDN1 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EDNRA 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EFNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EFTUD2 97.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EIF2S3 97.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EIF4A3 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EOGT 89.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EPG5 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SELENOI 98.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ESCO2 97.31 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ESRP2 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EYA1 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FAM111A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FAM20C 95.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FANCL 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FBXO11 97.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGD1 95.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGFR1 98.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGFR2 99.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FLNA 98.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FLNB 98.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXC2 91.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXE1 85.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXP2 98.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FRAS1 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FREM2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FTO 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GATA3 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GATA6 89.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GDF1 74.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GJA1 99.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GLI3 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GMNN 96.00 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GNAI3 97.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GPC3 95.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GRHL3 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GRIP1 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GYPE 96.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HDAC8 97.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HOXA2 98.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HYLS1 99.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CILK1 98.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT140 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT172 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT52 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT80 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BPNT2 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    INTS1 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IRF6 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KANSL1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KAT6A 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KAT6B 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KCNJ2 99.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KDM1A 97.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KDM6A 94.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WASHC5 98.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIAA0586 93.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIFBP 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIF22 98.55 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIF7 95.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KMT2D 99.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    LMNA 98.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    LMX1B 99.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MAP3K7 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MAPRE2 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MASP1 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MBTPS2 97.08 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED12 97.56 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED13L 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED25 97.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MEIS2 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MEOX1 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    METTL23 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MID1 97.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MKS1 98.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MSX1 97.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NBN 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NEDD4L 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NEK1 98.70 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NIPBL 98.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NOTCH1 98.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NSDHL 98.23 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    OFD1 92.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PAX3 99.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PGAP2 99.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PGM1 97.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PHF8 97.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PHGDH 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIEZO2 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGA 95.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGL 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGN 97.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGV 99.40 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIK3R2 91.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLCB4 98.47 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLEKHA5 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLEKHA7 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1A 98.85 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1C 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1D 94.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POMT1 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POMT2 98.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PORCN 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PQBP1 97.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PSAT1 99.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PTCH1 97.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PTDSS1 99.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NECTIN1 99.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RAI1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RARB 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBM10 96.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBM8A 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBPJ 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ROR2 97.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPL11 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPL5 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS17 23.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS19 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS26 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS28 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RSPO2 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RYR1 97.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SALL4 99.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SATB2 99.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SCARF2 92.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SEC23A 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SF3B4 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SHH 96.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX3 97.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX5 95.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SKI 94.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SLC26A2 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD2 98.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD3 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD4 98.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMC1A 97.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMC3 98.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMG9 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMOC1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMS 92.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SNRPB 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SON 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SOX2 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SOX9 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SPECC1L 99.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STAMBP 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STIL 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STRA6 98.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STXBP1 99.15 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SUMO1 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX1 78.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX15 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX22 98.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TCOF1 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TCTN3 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TELO2 98.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TFAP2A 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TFAP2B 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGDS 98.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFB2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFB3 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFBR1 94.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFBR2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TMCO1 94.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MYMK 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TP63 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TRAPPC9 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TRIM37 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TSR2 93.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TTC21B 98.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TUBB 99.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TWIST2 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TXNL4A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    UBB 99.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    UQCC2 99.28 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    USP9X 95.07 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    VAX1 87.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WDR19 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2I2 98.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WDR35 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2I1 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WNT3 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WNT5A 98.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    XYLT1 89.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    YAP1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZBTB24 99.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZEB2 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZIC2 87.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZIC3 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZMPSTE24 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZSWIM6 88.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  • Early-onset severe obesity (44 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY3 100.00 0 only for coding exons and intronic borders +/-14pb
    ALMS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS2 100.00 0 only for coding exons and intronic borders +/-14pb
    ARL6 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS4 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS5 100.00 0 only for coding exons and intronic borders +/-14pb
    MKKS 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS7 100.00 0 only for coding exons and intronic borders +/-14pb
    TTC8 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS9 99.99 0 only for coding exons and intronic borders +/-14pb
    BBS10 100.00 0 only for coding exons and intronic borders +/-14pb
    TRIM32 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS12 100.00 0 only for coding exons and intronic borders +/-14pb
    MKS1 100.00 0 only for coding exons and intronic borders +/-14pb
    CEP290 99.99 0 only for coding exons and intronic borders +/-14pb
    WDPCP 100.00 0 only for coding exons and intronic borders +/-14pb
    SDCCAG8 100.00 0 only for coding exons and intronic borders +/-14pb
    LZTFL1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBIP1 100.00 0 only for coding exons and intronic borders +/-14pb
    IFT27 100.00 0 only for coding exons and intronic borders +/-14pb
    BDNF 100.00 0 only for coding exons and intronic borders +/-14pb
    CREBBP 99.99 0 only for coding exons and intronic borders +/-14pb
    EP300 99.99 0 only for coding exons and intronic borders +/-14pb
    GNAS 99.34 0 only for coding exons and intronic borders +/-14pb
    INPP5E 97.02 0 only for coding exons and intronic borders +/-14pb
    LEP 100.00 1 only for coding exons and intronic borders +/-14pb
    LEPR 99.99 1 only for coding exons and intronic borders +/-14pb
    MAGEL2 99.54 0 only for coding exons and intronic borders +/-14pb
    MC3R 100.00 1 only for coding exons and intronic borders +/-14pb
    MC4R 100.00 1 only for coding exons and intronic borders +/-14pb
    MYT1L 100.00 0 only for coding exons and intronic borders +/-14pb
    NTRK2 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK1 99.99 0 only for coding exons and intronic borders +/-14pb
    PHF6 99.98 0 only for coding exons and intronic borders +/-14pb
    POMC 99.97 1 only for coding exons and intronic borders +/-14pb
    RAB23 100.00 0 only for coding exons and intronic borders +/-14pb
    SETD2 100.00 0 only for coding exons and intronic borders +/-14pb
    SH2B1 100.00 1 only for coding exons and intronic borders +/-14pb
    SIM1 100.00 1 only for coding exons and intronic borders +/-14pb
    TBX3 98.58 0 only for coding exons and intronic borders +/-14pb
    TUB 100.00 0 only for coding exons and intronic borders +/-14pb
    DYRK1B 99.94 0 only for coding exons and intronic borders +/-14pb
    MRAP2 100.00 0 only for coding exons and intronic borders +/-14pb
  • Hepatorenal disorders (13 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BCS1L 100.00 1 Part of Gastro-pneumo panel
    CC2D2A 100.00 1 Part of Gastro-pneumo panel
    DCDC2 100.00 1 Part of Gastro-pneumo panel
    EHHADH 100.00 1 Part of Gastro-pneumo panel
    HNF1B 100.00 1 Part of Gastro-pneumo panel
    INVS 100.00 1 Part of Gastro-pneumo panel
    MKS1 100.00 1 Part of Gastro-pneumo panel
    NPHP1 100.00 1 Part of Gastro-pneumo panel
    NPHP3 100.00 1 Part of Gastro-pneumo panel
    NPHP4 100.00 1 Part of Gastro-pneumo panel
    PKHD1 100.00 1 Part of Gastro-pneumo panel
    POLG 100.00 1 Part of Gastro-pneumo panel
    TMEM216 100.00 1 Part of Gastro-pneumo panel