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  2. Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Disease Export to PDF
Name:
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHAcode:
90635
Synonyms:
Autosomal dominant isolated neurosensory deafness type DFNA
Autosomal dominant isolated neurosensory hearing loss type DFNA
Autosomal dominant isolated sensorineural deafness type DFNA
Autosomal dominant isolated sensorineural hearing loss type DFNA
Autosomal dominant non-syndromic neurosensory deafness type DFNA
Autosomal dominant non-syndromic neurosensory hearing loss type DFNA
Autosomal dominant non-syndromic sensorineural hearing loss type DFNA
XREF(s):
Orphanet
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Analyte(s):
KITLG
CENPP
USP48
SSBP1
TRRAP
PDE1C
ATP11A
SLC44A4
POU4F3
SIX1
TECTA
TMC1
WFS1
COCH
COL11A2
GSDME
EYA4
GJB2
GJB3
GJB6
KCNQ4
MYH14
MYH9
MYO6
MYO7A
CCDC50
GRHL2
CRYM
ACTG1
SLC17A8
MIR96
TBC1D24
TJP2
CEACAM16
DIAPH3
DIABLO
P2RX2
TNC
MYO1C
OSBPL2
HOMER2
MCM2
CD164
ABCC1
PTPRQ
PLS1
MAP1B
DMXL2
MYO1A
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hearing loss (deafness) (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.11 1
    ACTG1 100.00 1
    ADCY1 98.44 1
    ADGRV1 99.88 1
    AIFM1 99.43 1
    ATOH1 100.00 1
    ATP11A 99.99 1
    ATP2B2 99.96 1
    ATP6V0A4 99.83 1
    ATP6V1B1 99.92 1
    ATP6V1B2 99.91 1
    BDP1 99.89 1
    BSND 100.00 1
    CABP2 99.99 1
    CACNA1D 99.94 1
    CCDC50 99.92 1
    CD164 99.92 1
    CDC14A 99.95 1
    CDH23 99.95 1
    CEACAM16 99.92 1
    CEP250 99.98 1
    CEP78 99.83 1
    CHD7 99.96 1
    CIB2 99.99 1
    CISD2 99.95 1
    CLDN14 100.00 1
    CLIC5 99.98 1
    CLPP 100.00 1
    CLRN1 99.97 1
    COCH 99.90 1
    COL11A1 99.89 1
    COL11A2 99.35 1
    COL2A1 100.00 1
    COL4A3 99.94 1
    COL4A4 99.96 1
    COL4A5 99.18 1
    COL4A6 99.37 1
    COL9A1 99.98 1
    COL9A2 99.95 1
    COL9A3 99.86 1
    CRYL1 99.89 1
    CRYM 99.91 1
    DCDC2 99.93 1
    DIABLO 99.98 1
    DIAPH1 97.50 1
    DIAPH3 99.86 1
    DMXL2 99.40 1
    DNAAF10 99.97 1
    EDN3 100.00 1
    EDNRB 99.94 1
    ELMOD3 100.00 1
    EPHA10 97.51 1
    EPS8 99.87 1
    EPS8L2 99.87 1
    ERAL1 99.97 1
    ESPN 96.05 1
    ESRP1 99.81 1
    ESRRB 100.00 1
    EYA1 99.93 1
    EYA4 99.98 1
    FDXR 99.98 1
    FGF3 98.11 1
    FOXI1 100.00 1
    GATA3 99.89 1
    GIPC3 97.45 1
    GJB2 100.00 1
    GJB3 100.00 1
    GJB6 100.00 1
    GPSM2 99.94 1
    GRHL2 99.95 1
    GRXCR1 100.00 1
    GRXCR2 99.91 1
    GSDME 99.97 1
    HARS1 99.99 1
    HARS2 99.51 1
    HECTD3 99.39 1
    HGF 99.96 1
    HOMER2 99.74 1
    HOXA2 99.93 1
    HSD17B4 99.80 1
    IFNLR1 99.52 1
    ILDR1 99.95 1
    KARS1 99.91 1
    KCNE1 100.00 1
    KCNJ10 100.00 1
    KCNQ1 99.87 1
    KCNQ4 99.49 1
    KITLG 99.87 1
    LARS2 99.99 1
    LHFPL5 99.99 1
    LMX1A 100.00 1
    LOXHD1 99.73 1
    LRTOMT 99.99 1
    MARVELD2 99.96 1
    MCM2 99.96 1
    MET 99.97 1
    MIR96 100.00 1
    MITF 99.97 1
    MPZL2 99.96 1
    MSRB3 99.96 1
    MTAP 98.96 1
    MYH14 99.79 1
    MYH9 100.00 1
    MYO15A 99.59 1
    MYO3A 99.84 1
    MYO6 99.77 1
    MYO7A 99.99 1
    NARS2 99.94 1
    NDP 99.95 1
    NLRP3 99.90 1
    OSBPL2 100.00 1
    OTOA 99.83 1
    OTOF 99.95 1
    OTOG 99.99 1
    OTOGL 99.63 1
    P2RX2 99.91 1
    PAX3 99.98 1
    PCDH15 99.94 1
    PDE1C 99.92 1
    PDZD7 99.82 1
    PI4KB 99.55 1
    PJVK 99.79 1
    PLS1 99.80 1
    PNPT1 99.86 1
    POLR1B 99.95 1
    POLR1C 97.52 1
    POLR1D 99.72 1
    POU3F4 99.94 1
    POU4F3 100.00 1
    PPIP5K2 99.83 1
    PRPS1 99.79 1
    PTPRQ 99.83 1
    RDX 99.80 1
    REST 99.96 1
    RIPOR2 99.96 1
    ROR1 98.58 1
    S1PR2 100.00 1
    SALL1 99.99 1
    SEMA3E 99.97 1
    SERPINB6 98.21 1
    SIX1 100.00 1
    SIX5 99.87 1
    SLC12A2 98.96 1
    SLC17A8 99.95 1
    SLC22A4 99.96 1
    SLC26A4 99.95 1
    SLC26A5 99.95 1
    SLC4A11 99.99 1
    SLC7A8 99.99 1
    SLITRK6 100.00 1
    SMPX 99.37 1
    SNAI2 99.98 1
    SOX10 100.00 1
    SPATC1L 100.00 1
    SSBP1 99.99 1
    STRC 99.73 1
    SYNE4 100.00 1
    TBC1D24 99.97 1
    TCOF1 99.96 1
    TECTA 99.97 1
    THRAP3 99.89 1
    TIMM8A 99.78 1
    TJP2 99.94 1
    TMC1 99.83 1
    TMEM132E 99.75 1
    TMIE 99.95 1
    TMPRSS3 99.95 1
    TMTC2 99.96 1
    TNC 99.97 1
    TPRN 90.56 1
    TRIOBP 99.09 1
    TSPEAR 99.97 1
    TWNK 100.00 1
    USH1C 98.72 1
    USH1G 99.96 1
    USH2A 99.95 1
    USP48 99.80 1
    WBP2 99.86 1
    WFS1 100.00 1
    WHRN 99.69 1
  • essai
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SLC12A3
    ORC4
    COCH