1. Analytes
  2. UQCC2

UQCC2

Analyte Export to PDF
Name:
ubiquinol-cytochrome c reductase complex assembly factor 2
Symbol:
UQCC2
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
Cbp6
M19
MGC14833
bA6B20.2
cytochrome B protein synthesis 6 homolog (S. cerevisiae)
XREF(s):
Orphanet
Reactome
Ensembl
Genatlas
HGNC
OMIM
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • 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)
  • mitochondrial disease, nuclear based (343 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS2 100.00 0 No comment
    ABAT 100.00 0 No comment
    ABCB7 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACO2 100.00 0 No comment
    ADPRS 99.18 0 No comment
    AFG3L2 95.05 0 No comment
    AGK 100.00 0 No comment
    AIFM1 100.00 0 No comment
    ALDH1B1 100.00 0 No comment
    ANO10 100.00 0 No comment
    APTX 100.00 0 No comment
    ATAD3A 98.67 0 No comment
    ATAD3B 98.52 0 No comment
    ATAD3C 97.28 0 No comment
    ATL1 100.00 0 No comment
    ATL3 100.00 0 No comment
    ATP5F1A 100.00 0 No comment
    ATP5F1B 100.00 0 No comment
    ATP5F1C 100.00 0 No comment
    ATP5F1D 86.59 0 No comment
    ATP5F1E 100.00 0 No comment
    ATP5IF1 100.00 0 No comment
    ATP5MC1 100.00 0 No comment
    ATP5MC2 100.00 0 No comment
    ATP5MC3 100.00 0 No comment
    ATP5MK 100.00 0 No comment
    ATP5ME 100.00 0 No comment
    ATP5MF 100.00 0 No comment
    ATP5MG 100.00 0 No comment
    ATP5MGL 100.00 0 No comment
    ATP5PB 99.84 0 No comment
    ATP5PD 99.81 0 No comment
    ATP5PF 100.00 0 No comment
    ATP5PO 100.00 0 No comment
    ATPAF1 81.57 0 No comment
    ATPAF2 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BOLA1 100.00 0 No comment
    BOLA2 100.00 0 No comment
    BOLA3 84.43 0 No comment
    MTRFR 100.00 0 No comment
    C19ORF12 100.00 0 No comment
    C1QBP 97.23 0 No comment
    CARS2 95.42 0 No comment
    CEP89 100.00 0 No comment
    CHCHD10 97.45 0 No comment
    CHKB 99.69 0 No comment
    CLPB 100.00 0 No comment
    CLPP 100.00 0 No comment
    COA1 100.00 0 No comment
    COA3 100.00 0 No comment
    COA5 100.00 0 No comment
    COA6 100.00 0 No comment
    COA7 100.00 0 No comment
    COA8 100.00 0 No comment
    COASY 100.00 0 No comment
    COQ2 97.15 0 No comment
    COQ4 100.00 0 No comment
    COQ6 100.00 0 No comment
    COQ7 100.00 0 No comment
    COQ8A 100.00 0 No comment
    COQ8B 90.08 0 No comment
    COQ9 99.99 0 No comment
    COX10 100.00 0 No comment
    COX14 100.00 0 No comment
    COX15 100.00 0 No comment
    COX20 98.72 0 No comment
    COX4I1 100.00 0 No comment
    COX4I2 100.00 0 No comment
    COX5A 97.33 0 No comment
    COX5B 100.00 0 No comment
    COX6A1 100.00 0 No comment
    COX6A2 100.00 0 No comment
    COX6B1 100.00 0 No comment
    COX6B2 100.00 0 No comment
    COX6C 100.00 0 No comment
    COX7A1 100.00 0 No comment
    COX7A2 100.00 0 No comment
    COX7A2L 100.00 0 No comment
    COX7B 99.88 0 No comment
    COX7B2 100.00 0 No comment
    COX7C 100.00 0 No comment
    COX8A 100.00 0 No comment
    COX8C 98.71 0 No comment
    CYC1 88.46 0 No comment
    CYCS 100.00 0 No comment
    DARS2 100.00 0 No comment
    DDHD1 98.94 0 No comment
    DES 100.00 0 No comment
    DGUOK 100.00 0 No comment
    DHTKD1 99.98 0 No comment
    DLAT 100.00 0 No comment
    DLD 100.00 0 No comment
    DLST 100.00 0 No comment
    DMAC2L 100.00 0 No comment
    DNA2 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNAJC3 100.00 0 No comment
    DNM1L 100.00 0 No comment
    EARS2 100.00 0 No comment
    ECHS1 99.99 0 No comment
    ECSIT 100.00 0 No comment
    ELAC2 99.99 0 No comment
    ETHE1 99.88 0 No comment
    FARS2 100.00 0 No comment
    FASTKD2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FDX2 100.00 0 No comment
    FDXR 100.00 0 No comment
    FH 100.00 0 No comment
    FOXRED1 100.00 0 No comment
    FXN 89.89 0 No comment
    GARS1 99.53 0 No comment
    GATB 100.00 0 No comment
    GATC 100.00 0 No comment
    GATM 99.26 0 No comment
    GFER 97.55 0 No comment
    GFM1 100.00 0 No comment
    GFM2 100.00 0 No comment
    GLRX5 84.06 0 No comment
    GLUD1 99.45 0 No comment
    GTPBP3 100.00 0 No comment
    HARS2 100.00 0 No comment
    HCCS 100.00 0 No comment
    HIBCH 100.00 0 No comment
    HLCS 100.00 0 No comment
    HSD17B10 100.00 0 No comment
    HSPA9 100.00 0 No comment
    HSPD1 99.53 0 No comment
    HTRA2 100.00 0 No comment
    IARS2 100.00 0 No comment
    IBA57 87.89 0 No comment
    ISCA1 99.77 0 No comment
    ISCA2 100.00 0 No comment
    ISCU 99.39 0 No comment
    KARS1 100.00 0 No comment
    LACTB 91.87 0 No comment
    LARS2 100.00 0 No comment
    LIAS 100.00 0 No comment
    LIPT1 100.00 0 No comment
    LIPT2 94.78 0 No comment
    LONP1 99.83 0 No comment
    LRPPRC 99.14 0 No comment
    LYRM4 68.80 0 No comment
    LYRM7 100.00 0 No comment
    MARS2 100.00 0 No comment
    MCUR1 79.55 0 No comment
    MDH2 98.91 0 No comment
    MFF 100.00 0 No comment
    MFN2 100.00 0 No comment
    MGME1 100.00 0 No comment
    MICOS13 100.00 0 No comment
    MICU1 100.00 0 No comment
    MIEF2 100.00 0 No comment
    MMUT 100.00 0 No comment
    MPC1 100.00 0 No comment
    MPV17 100.00 0 No comment
    MRM2 99.91 0 No comment
    MRM3 100.00 0 No comment
    MRPL12 92.58 0 No comment
    MRPL3 100.00 0 No comment
    MRPL44 100.00 0 No comment
    MRPL57 100.00 0 No comment
    MRPS14 100.00 0 No comment
    MRPS16 100.00 0 No comment
    MRPS2 98.34 0 No comment
    MRPS22 100.00 0 No comment
    MRPS34 97.33 0 No comment
    MRPS7 100.00 0 No comment
    MRRF 100.00 0 No comment
    MSTO1 100.00 0 No comment
    MTFMT 99.11 0 No comment
    MTO1 95.75 0 No comment
    MTPAP 100.00 0 No comment
    NADK2 90.73 0 No comment
    NARS2 100.00 0 No comment
    NAXE 99.78 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA10 95.87 0 No comment
    NDUFA11 98.06 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFA13 100.00 0 No comment
    NDUFA2 100.00 0 No comment
    NDUFA3 100.00 0 No comment
    NDUFA4 99.68 0 No comment
    NDUFA5 87.27 0 No comment
    NDUFA6 100.00 0 No comment
    NDUFA7 100.00 0 No comment
    NDUFA8 100.00 0 No comment
    NDUFA9 100.00 0 No comment
    NDUFAB1 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFAF2 100.00 0 No comment
    NDUFAF3 100.00 0 No comment
    NDUFAF4 100.00 0 No comment
    NDUFAF5 100.00 0 No comment
    NDUFAF6 93.73 0 No comment
    NDUFAF7 100.00 0 No comment
    NDUFB1 100.00 0 No comment
    NDUFB10 100.00 0 No comment
    NDUFB11 99.52 0 No comment
    NDUFB2 100.00 0 No comment
    NDUFB3 100.00 0 No comment
    NDUFB4 99.85 0 No comment
    NDUFB5 100.00 0 No comment
    NDUFB6 100.00 0 No comment
    NDUFB7 100.00 0 No comment
    NDUFB8 100.00 0 No comment
    NDUFB9 100.00 0 No comment
    NDUFC1 100.00 0 No comment
    NDUFC2 100.00 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS3 100.00 0 No comment
    NDUFS4 100.00 0 No comment
    NDUFS5 99.18 0 No comment
    NDUFS6 100.00 0 No comment
    NDUFS7 99.49 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 100.00 0 No comment
    NDUFV2 100.00 0 No comment
    NDUFV3 99.46 0 No comment
    NFS1 93.58 0 No comment
    NFU1 99.75 0 No comment
    NSUN3 100.00 0 No comment
    NUBPL 100.00 0 No comment
    OGDH 100.00 0 No comment
    MED12 100.00 0 No comment
    OPA3 100.00 0 No comment
    OXA1L 100.00 0 No comment
    PANK2 98.60 0 No comment
    PARS2 100.00 0 No comment
    PODXL 100.00 0 No comment
    PDHA1 98.17 0 No comment
    PDHB 100.00 0 No comment
    PDHX 99.87 0 No comment
    PDK1 99.19 0 No comment
    PDK2 100.00 0 No comment
    PDK3 99.76 0 No comment
    PDK4 100.00 0 No comment
    PDP1 100.00 0 No comment
    PDSS1 86.24 0 No comment
    PDSS2 100.00 0 No comment
    PET100 100.00 0 No comment
    PET117 100.00 0 No comment
    PIGA 100.00 0 No comment
    PINK1 92.83 0 No comment
    PISD 100.00 0 No comment
    PITRM1 100.00 0 No comment
    PMPCA 100.00 0 No comment
    PNPT1 100.00 0 No comment
    POLG 100.00 0 No comment
    POLG2 100.00 0 No comment
    POLR3A 100.00 0 No comment
    PPA2 99.97 0 No comment
    PTRH2 100.00 0 No comment
    PUS1 99.08 0 No comment
    PYCR1 100.00 0 No comment
    PYCR2 100.00 0 No comment
    QRSL1 100.00 0 No comment
    RARS2 100.00 0 No comment
    REEP1 97.37 0 No comment
    RMND1 100.00 0 No comment
    RNASEH1 100.00 0 No comment
    RRM2B 100.00 0 No comment
    SARS2 100.00 0 No comment
    SCO1 100.00 0 No comment
    SCO2 100.00 0 No comment
    SDHA 98.02 0 No comment
    SDHAF1 96.03 0 No comment
    SDHB 100.00 0 No comment
    SDHD 80.22 0 No comment
    SERAC1 100.00 0 No comment
    SFXN4 100.00 0 No comment
    SLC19A2 99.50 0 No comment
    SLC19A3 100.00 0 No comment
    SLC25A1 93.77 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A13 99.94 0 No comment
    SLC25A19 100.00 0 No comment
    SLC25A22 100.00 0 No comment
    SLC25A24 99.82 0 No comment
    SLC25A3 100.00 0 No comment
    SLC25A32 100.00 0 No comment
    SLC25A4 99.09 0 No comment
    SLC25A46 100.00 0 No comment
    SLC25A5 98.36 0 No comment
    SLC25A6 100.00 0 No comment
    SLC39A8 97.00 0 No comment
    SPART 100.00 0 No comment
    SPAST 100.00 0 No comment
    AFG2A 100.00 0 No comment
    SPG7 96.56 0 No comment
    SQSTM1 93.68 0 No comment
    STXBP1 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUCLG2 99.95 0 No comment
    SURF1 87.74 0 No comment
    TACO1 99.90 0 No comment
    TANGO2 100.00 0 No comment
    TARS2 100.00 0 No comment
    WWTR1 99.81 0 No comment
    THG1L 100.00 0 No comment
    TIMM44 99.93 0 No comment
    TIMM50 100.00 0 No comment
    TIMM8A 100.00 0 No comment
    TIMMDC1 100.00 0 No comment
    TK2 95.90 0 No comment
    TMEM126A 100.00 0 No comment
    TMEM126B 100.00 0 No comment
    TMEM70 100.00 0 No comment
    TPK1 100.00 0 No comment
    TRIAP1 100.00 0 No comment
    TRIT1 100.00 0 No comment
    TRMT10C 100.00 0 No comment
    TRMT5 100.00 0 No comment
    TRMU 100.00 0 No comment
    TRNT1 100.00 0 No comment
    TSFM 93.22 0 No comment
    TTC19 85.12 0 No comment
    TUFM 100.00 0 No comment
    TWNK 100.00 0 No comment
    TXN2 100.00 0 No comment
    TYMP 91.72 0 No comment
    UBA52 100.00 0 No comment
    UQCC1 100.00 0 No comment
    UQCC2 100.00 0 No comment
    UQCC3 100.00 0 No comment
    UQCR10 100.00 0 No comment
    UQCR11 100.00 0 No comment
    UQCRB 100.00 0 No comment
    UQCRC1 99.82 0 No comment
    UQCRC2 100.00 0 No comment
    UQCRFS1 98.87 0 No comment
    UQCRH 100.00 0 No comment
    UQCRQ 100.00 0 No comment
    VARS2 100.00 0 No comment
    VPS13D 100.00 0 No comment
    WARS2 100.00 0 No comment
    YARS2 100.00 0 No comment
    YME1L1 100.00 0 No comment