1. Analytes
  2. VSX1

VSX1

Analyte Export to PDF
Name:
visual system homeobox 1
Symbol:
VSX1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
PPCD1
PPD
XREF(s):
Orphanet
HGNC
OMIM
SwissProt
Ensembl
Genatlas
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Corneal dystrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AGBL1 99.99 1
    CHRDL1 99.94 1
    CHST6 100.00 1
    COL17A1 99.98 1
    COL3A1 99.87 1
    COL5A1 99.99 1
    COL8A2 99.94 1
    CYP4V2 99.98 1
    DCN 99.42 1
    GRHL2 100.00 1
    GSN 99.93 1
    KERA 99.95 1
    KRT12 99.92 1
    KRT3 99.89 1
    LCAT 99.97 1
    LOXHD1 99.99 1
    NLRP1 95.26 1
    NLRP3 100.00 1
    OVOL2 100.00 1
    PAX6 99.95 1
    PIKFYVE 99.81 1
    PITX2 99.98 1
    PRDM5 99.76 1
    SLC4A11 100.00 1
    SOD1 99.97 1
    STS 99.81 1
    TACSTD2 100.00 1
    TCF4 98.56 1
    TGFBI 99.89 1
    UBIAD1 99.98 1
    VSX1 99.93 1
    ZEB1 100.00 1
    ZNF469 100.00 1
  • Microphthalmia/Anophthalmia/Coloboma - Anterior Segment Dysgenesis - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB6 99.97 1
    ACTB 100.00 1
    ACTG1 100.00 1
    ADAMTS17 99.99 1
    ADAMTS18 99.99 1
    ALDH1A3 99.96 1
    ASPH 99.92 1
    ATOH7 100.00 1
    B3GLCT 99.90 1
    BCOR 99.97 1
    BMP4 100.00 1
    BMP7 100.00 1
    C12ORF57 100.00 1
    CAPN15 99.98 1
    CC2D2A 99.95 1
    CDH2 99.84 1
    CDON 99.99 1
    CHD7 99.99 1
    CHRDL1 99.94 1
    CLDN19 99.02 1
    COL4A1 99.99 1
    COX7B 99.86 1
    CPAMD8 99.97 1
    CRIM1 99.99 1
    CRYBA4 100.00 1
    CYP1B1 100.00 1
    DYRK1A 99.98 1
    ERCC1 99.96 1
    ERCC2 99.98 1
    ERCC5 99.99 1
    ERCC6 99.60 1
    EYA1 99.81 1
    FOXC1 100.00 1
    FOXE3 99.29 1
    FOXL2 99.97 1
    FRAS1 99.97 1
    FREM1 99.98 1
    FREM2 99.97 1
    FZD5 100.00 1
    GDF3 100.00 1
    GDF6 100.00 1
    GJA1 100.00 1
    GRIP1 99.83 1
    HCCS 99.90 1
    HESX1 99.77 1
    HMGB3 0.00 1
    HMX1 100.00 1
    IGBP1 99.90 1
    KDM6A 99.74 1
    KIF26B 100.00 1
    KMT2D 99.98 1
    LRP2 99.86 1
    LTBP2 99.97 1
    MAB21L2 100.00 1
    MFRP 100.00 1
    MICU1 99.56 1
    MITF 99.98 1
    MYRF 99.98 1
    NAA10 99.99 1
    NDP 99.98 1
    NHS 99.96 1
    OCRL 99.89 1
    OTX2 100.00 1
    PAX2 99.99 1
    PAX6 99.95 1
    PIGL 99.98 1
    PITX2 99.98 1
    PITX3 100.00 1
    PORCN 99.93 1
    PQBP1 99.99 1
    PRSS56 100.00 1
    PTCH1 99.99 1
    PUF60 100.00 1
    PXDN 100.00 1
    RAB18 99.76 1
    RAB3GAP1 99.73 1
    RAB3GAP2 99.69 1
    RARB 99.99 1
    PRKRA 100.00 1
    RBP4 99.99 1
    RPGRIP1L 96.35 1
    SALL2 100.00 1
    SALL4 100.00 1
    SHH 100.00 1
    SIX3 100.00 1
    SIX6 100.00 1
    SLC38A8 99.99 1
    SMCHD1 99.83 1
    SMOC1 100.00 1
    SOX2 100.00 1
    STRA6 99.95 1
    TBC1D20 100.00 1
    TENM3 99.99 1
    TFAP2A 100.00 1
    TMEM67 99.69 1
    TMEM98 100.00 1
    VAX1 100.00 1
    VSX1 99.93 1
    VSX2 99.99 1
    WDR37 99.94 1
    YAP1 99.87 1
    ZIC2 100.00 1