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Sensorineural deafness with dilated cardiomyopathy

Disease Export to PDF
Name:
Sensorineural deafness with dilated cardiomyopathy
Description:
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
ORPHAcode:
217622
Synonyms:
Neurosensory deafness with dilated cardiomyopathy
Neurosensory hearing loss with dilated cardiomyopathy
Sensorineural hearing loss with dilated cardiomyopathy
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
EYA4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cardiomyopathy, hereditary (208 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACADVL 98.89 0 No comment
    ACE 97.11 0 No comment
    ACTA1 100.00 0 No comment
    ACTC1 100.00 0 No comment
    ACTN2 100.00 0 No comment
    ADD3 100.00 0 No comment
    ADRB2 100.00 0 No comment
    AGXT 100.00 0 No comment
    AGTR1 100.00 0 No comment
    AKAP9 100.00 0 No comment
    ALPK3 98.02 0 No comment
    ANKRD1 100.00 0 No comment
    APOA1 99.97 0 No comment
    B2M 100.00 0 No comment
    BAG3 100.00 0 No comment
    BRAF 96.97 0 No comment
    CACNA1C 100.00 0 No comment
    CACNB2 100.00 0 No comment
    CALM1 100.00 0 No comment
    CALM2 100.00 0 No comment
    CALM3 99.99 0 No comment
    CALR3 100.00 0 No comment
    CASQ2 100.00 0 No comment
    CASZ1 95.56 0 No comment
    CAV3 100.00 0 No comment
    CAVIN4 100.00 0 No comment
    CBL 100.00 0 No comment
    CDH2 97.48 0 No comment
    CHRM2 100.00 0 No comment
    CMYA5 99.99 0 No comment
    CNBP 100.00 0 No comment
    COA5 100.00 0 No comment
    COA6 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 100.00 0 No comment
    CRYAB 100.00 0 No comment
    CSRP3 100.00 0 No comment
    CTF1 30.96 0 No comment
    CTNNA3 100.00 0 No comment
    DES 100.00 0 No comment
    DLG1 100.00 0 No comment
    DMD 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNM1L 100.00 0 No comment
    DOLK 100.00 0 No comment
    DSC3 98.44 0 No comment
    DSG2 99.61 0 No comment
    DSP 100.00 0 No comment
    DTNA 100.00 0 No comment
    ECRG4 99.32 0 No comment
    ELAC2 99.99 0 No comment
    ELN 100.00 0 No comment
    EMD 99.84 0 No comment
    EYA4 100.00 0 No comment
    FBXO32 100.00 0 No comment
    CFH 100.00 0 No comment
    FHL2 100.00 0 No comment
    FHOD3 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNC 100.00 0 No comment
    FLT1 99.53 0 No comment
    FOXD4 100.00 0 No comment
    FXN 89.89 0 No comment
    GAA 100.00 0 No comment
    GATA4 80.69 0 No comment
    GATA5 97.28 0 No comment
    GATA6 81.11 0 No comment
    GATAD1 88.18 0 No comment
    GLA 100.00 0 No comment
    GTPBP3 100.00 0 No comment
    HACD1 95.46 0 No comment
    HADHB 100.00 0 No comment
    HAND1 100.00 0 No comment
    HCN4 92.35 0 No comment
    HIF1A 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSPB6 99.65 0 No comment
    HSPB7 100.00 0 No comment
    ILK 100.00 0 No comment
    INS-IGF2 99.94 0 No comment
    ISL1 100.00 0 No comment
    JPH2 95.10 0 No comment
    JUP 100.00 0 No comment
    KARS1 100.00 0 No comment
    KAT2B 94.80 0 No comment
    KCND2 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNH2 94.44 0 No comment
    KCNJ12 100.00 0 No comment
    KCNQ1 91.07 0 No comment
    KIF20A 100.00 0 No comment
    KLF10 100.00 0 No comment
    LAMA2 100.00 0 No comment
    LAMA4 100.00 0 No comment
    LAMP2 100.00 0 No comment
    LDB3 100.00 0 No comment
    LMNA 99.93 0 No comment
    LRRC10 100.00 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MIB1 100.00 0 No comment
    MIB2 99.31 0 No comment
    MRPL3 100.00 0 No comment
    MRPL44 100.00 0 No comment
    MTO1 95.75 0 No comment
    MYBPC3 100.00 0 No comment
    MYH15 100.00 0 No comment
    MYH6 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH7B 99.96 0 No comment
    MYL2 100.00 0 No comment
    MYL3 100.00 0 No comment
    MYLK2 100.00 0 No comment
    MYO6 100.00 0 No comment
    MYOM1 100.00 0 No comment
    MYOM3 100.00 0 No comment
    MYOZ1 100.00 0 No comment
    MYOZ2 100.00 0 No comment
    MYPN 100.00 0 No comment
    NAA10 96.03 0 No comment
    NCOA6 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFV2 100.00 0 No comment
    NEB 99.99 0 No comment
    NEBL 100.00 0 No comment
    NEXN 100.00 0 No comment
    NKX2-5 100.00 0 No comment
    NPPA 100.00 0 No comment
    NRAP 100.00 0 No comment
    OBSCN 99.26 0 No comment
    OBSL1 98.31 0 No comment
    MED12 100.00 0 No comment
    PDLIM3 100.00 0 No comment
    PKP2 99.87 0 No comment
    PLEC 99.82 0 No comment
    PLEKHM2 99.60 0 No comment
    PLN 100.00 0 No comment
    PPCS 100.00 0 No comment
    PRDM16 100.00 0 No comment
    PRKAG2 95.88 0 No comment
    PRNP 100.00 0 No comment
    PSEN1 100.00 0 No comment
    PSEN2 100.00 0 No comment
    PTEN 98.86 0 No comment
    PTPN11 98.80 0 No comment
    RAF1 100.00 0 No comment
    RANGRF 100.00 0 No comment
    RBM20 99.82 0 No comment
    RIT1 100.00 0 No comment
    RPSA 97.87 0 No comment
    RRAGC 99.99 0 No comment
    RTKN2 100.00 0 No comment
    RYR2 100.00 0 No comment
    S100A1 100.00 0 No comment
    SCN4B 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SDHA 98.02 0 No comment
    SGCB 94.58 0 No comment
    SGCD 100.00 0 No comment
    SGCG 100.00 0 No comment
    SGK1 99.99 0 No comment
    SHOC2 100.00 0 No comment
    SLC12A1 100.00 0 No comment
    SLC22A5 100.00 0 No comment
    SLC25A3 100.00 0 No comment
    SLC25A4 99.09 0 No comment
    SMC1A 100.00 0 No comment
    SNTA1 84.25 0 No comment
    SOD2 100.00 0 No comment
    SOS1 100.00 0 No comment
    SYNE1 100.00 0 No comment
    SYNE2 100.00 0 No comment
    SYNM 92.59 0 No comment
    TAF1A 100.00 0 No comment
    TAX1BP3 100.00 0 No comment
    WWTR1 99.81 0 No comment
    TBX20 100.00 0 No comment
    TBX5 100.00 0 No comment
    TCAP 100.00 0 No comment
    TCF21 100.00 0 No comment
    TGFB3 100.00 0 No comment
    TJP1 99.14 0 No comment
    TK2 95.90 0 No comment
    TMED4 100.00 0 No comment
    TMEM43 100.00 0 No comment
    TMEM87B 99.37 0 No comment
    TMPO 99.87 0 No comment
    TNNI3 100.00 0 No comment
    TNNI3K 100.00 0 No comment
    TNNT2 100.00 0 No comment
    TNNT3 100.00 0 No comment
    TPM1 99.98 0 No comment
    TRIM54 99.66 0 No comment
    TRIM55 100.00 0 No comment
    TRIM63 100.00 0 No comment
    TRPM4 100.00 0 No comment
    TSFM 93.22 0 No comment
    TTN 100.00 0 No comment
    TTR 100.00 0 No comment
    TXNRD2 96.90 0 No comment
    VCL 100.00 0 No comment
    VEGFA 98.73 0 No comment
    YWHAE 98.69 0 No comment
    ZBTB17 100.00 0 No comment