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  2. Autosomal recessive bestrophinopathy

Autosomal recessive bestrophinopathy

Disease Export to PDF
Name:
Autosomal recessive bestrophinopathy
Description:
A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).
ORPHAcode:
139455
Synonyms:
Retinopathy, Burgess-Black type
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
BEST1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cataract - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.98 1
    ADAMTSL4 99.66 1
    AGK 99.99 1
    ALDH18A1 99.96 1
    B3GLCT 99.90 1
    BCOR 99.97 1
    BEST1 99.86 1
    BFSP1 100.00 1
    BFSP2 99.09 1
    CHMP4B 99.96 1
    COL11A1 90.72 1
    COL18A1 99.99 1
    COL2A1 99.87 1
    CRYAA 19.49 1
    CRYAB 100.00 1
    CRYBA1 99.99 1
    CRYBA2 100.00 1
    CRYBA4 100.00 1
    CRYBB1 99.46 1
    CRYBB2 99.94 1
    CRYBB3 99.99 1
    CRYGB 99.99 1
    CRYGC 100.00 1
    CRYGD 100.00 1
    CRYGS 100.00 1
    CTDP1 99.97 1
    CYP27A1 100.00 1
    CYP51A1 97.82 1
    DNMBP 99.94 1
    EPG5 99.95 1
    EPHA2 99.99 1
    EYA1 99.81 1
    HYCC1 99.81 1
    FBN1 99.85 1
    FOXE3 99.29 1
    FTL 99.99 1
    FYCO1 100.00 1
    FZD4 100.00 1
    GALK1 100.00 1
    GALT 100.00 1
    GCNT2 100.00 1
    GJA1 100.00 1
    GJA3 100.00 1
    GJA8 99.99 1
    HMX1 100.00 1
    HSF4 99.98 1
    INPP5K 99.94 1
    INTS1 100.00 1
    JAM3 100.00 1
    LCAT 99.97 1
    LEMD2 100.00 1
    LIM2 100.00 1
    LSS 99.98 1
    MAF 99.73 1
    MIPEP 99.98 1
    MIR184 100.00 1
    MYH9 99.95 1
    NDP 99.98 1
    NF2 100.00 1
    NHS 99.96 1
    OCRL 99.89 1
    OPA3 100.00 1
    P3H2 99.93 1
    PANK4 100.00 1
    PAX6 99.95 1
    PITX3 100.00 1
    PXDN 100.00 1
    RRAGA 100.00 1
    SIL1 99.95 1
    SIPA1L3 99.97 1
    SLC16A12 100.00 1
    SLC33A1 99.67 1
    TDRD7 99.87 1
    UNC45B 100.00 1
    VIM 100.00 1
    VSX2 99.99 1
    WFS1 99.99 1
  • test
    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