Hearing loss (deafness) (genepanel) - UZA

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Full name:
Hearing loss (deafness) (genepanel) - UZA
Version number:
WESHL_v4
Laboratory:
Centrum Medische Genetica - UZ Antwerpen
Created:
04 Jul 2019 - 13:34
Changed:
27 Nov 2023 - 11:44
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