Gen-Panel
Nicht-syndromale Schwerhörigkeit, umfassende Diagnostik: ID237.03, 133 Gene
ABCC1,
ACTG1,
ADCY1,
AFG2B,
AIFM1,
ATOH1,
ATP2B2,
ATP11A,
BDP1,
CABP2,
CCDC50,
CD164,
CDC14A,
CDH23,
CEACAM16,
CIB2,
CLDN9,
CLDN14,
CLIC5,
CLRN2,
COCH,
COL4A6,
COL11A1,
COL11A2,
CRYM,
DCDC2,
DIABLO,
DIAPH1,
DMXL2,
DSPP,
ELMOD3,
EPHA10,
EPS8,
EPS8L2,
ESPN,
ESRP1,
ESRRB,
EYA4,
GAB1,
GAS2,
GIPC3,
GJB2,
GJB3,
GJB6,
GPR156,
GPRASP2,
GRAP,
GREB1L,
GRHL2,
GRXCR1,
GRXCR2,
GSDME,
HGF,
HOMER2,
ILDR1,
KARS1,
KCNQ4,
KITLG,
LHFPL5,
LMX1A,
LOXHD1,
LRTOMT,
MAP1B,
MARVELD2,
MCM2,
MET,
MINAR2,
MPZL2,
MSRB3,
MT-RNR1,
MYH9,
MYH14,
MYO3A,
MYO6,
MYO7A,
MYO15A,
NARS2,
NLRP3,
OSBPL2,
OTOA,
OTOF,
OTOG,
OTOGL,
P2RX2,
PCDH15,
PDE1C,
PDZD7,
PI4KB,
PJVK,
PKHD1L1,
PLS1,
PNPT1,
POU3F4,
POU4F3,
PPIP5K2,
PRPS1,
PTPRQ,
RDX,
REST,
RIPOR2,
ROR1,
S1PR2,
SCD5,
SERPINB6,
SIX1,
SLC12A2,
SLC17A8,
SLC26A4,
SLC26A5,
SLC44A4,
SMPX,
SPNS2,
STRC,
STX4,
SYNE4,
TBC1D24,
TECTA,
THOC1,
TMC1,
TMEM132E,
TMIE,
TMPRSS3,
TMTC4,
TNC,
TPRN,
TRIOBP,
TRRAP,
TSPEAR,
USH1C,
USP48,
WBP2,
WFS1,
WHRN
Inkludierte Phänotypen
Nicht-syndromale Schwerhörigkeit, autosomal-dominant (DFNA): 60 Gene
ABCC1,
ACTG1,
ATOH1,
ATP2B2,
ATP11A,
CCDC50,
CD164,
CEACAM16,
COCH,
COL11A1,
COL11A2,
CRYM,
DIABLO,
DIAPH1,
DMXL2,
DSPP,
ELMOD3,
EPHA10,
EYA4,
GJB2,
GJB3,
GJB6,
GREB1L,
GRHL2,
GSDME,
HOMER2,
KCNQ4,
KITLG,
LMX1A,
MAP1B,
MCM2,
MT-RNR1,
MYH9,
MYH14,
MYO3A,
MYO6,
MYO7A,
NLRP3,
OSBPL2,
P2RX2,
PDE1C,
PI4KB,
PLS1,
POU4F3,
PTPRQ,
REST,
RIPOR2,
SCD5,
SIX1,
SLC12A2,
SLC17A8,
SLC44A4,
TBC1D24,
TECTA,
THOC1,
TMC1,
TNC,
TRRAP,
USP48,
WFS1
Nicht-syndromale Schwerhörigkeit, autosomal-rezessiv (DFNB): 83 Gene
ADCY1,
AFG2B,
BDP1,
CABP2,
CDC14A,
CDH23,
CEACAM16,
CIB2,
CLDN9,
CLDN14,
CLIC5,
CLRN2,
COCH,
COL11A2,
DCDC2,
ELMOD3,
EPS8,
EPS8L2,
ESPN,
ESRP1,
ESRRB,
GAB1,
GAS2,
GIPC3,
GJB2,
GJB3,
GJB6,
GPR156,
GRAP,
GRXCR1,
GRXCR2,
HGF,
ILDR1,
KARS1,
LHFPL5,
LOXHD1,
LRTOMT,
MARVELD2,
MET,
MINAR2,
MPZL2,
MSRB3,
MT-RNR1,
MYO3A,
MYO6,
MYO7A,
MYO15A,
NARS2,
OTOA,
OTOF,
OTOG,
OTOGL,
PCDH15,
PDZD7,
PJVK,
PKHD1L1,
PNPT1,
PPIP5K2,
PTPRQ,
RDX,
RIPOR2,
ROR1,
S1PR2,
SERPINB6,
SLC26A4,
SLC26A5,
SPNS2,
STRC,
STX4,
SYNE4,
TBC1D24,
TECTA,
TMC1,
TMEM132E,
TMIE,
TMPRSS3,
TMTC4,
TPRN,
TRIOBP,
TSPEAR,
USH1C,
WBP2,
WHRN
Nicht-syndromale Schwerhörigkeit, X-chromosomal (DFNX): 6 Gene
AIFM1,
COL4A6,
GPRASP2,
POU3F4,
PRPS1,
SMPX
HPO Terms
CHD2, STXBP1, KCNQ2, KCNQ3, SCN1A, SCN2A, SCN8A, HNRNPU, DYRK1A, MED13L, MED13, ARID1A, ARID1B, ANKRD11, KAT6B, KAT6A, ASXL1, ASXL3, WDR45, SETD2, SETBP1, BRD4, CHD7, PIGV, PIGT, PIGW, PIGY, PIGS, PIGP, PIGL, PIGC, PIGQ, PIGF, PIGG, PIGO, PIGB, PIGX, PIGR, NIPBL, DVL2, ZEB2, DDX3X, TCF4, TCF12, PTPN11, SOS1, RAF1, BRAF, KRAS, NRAS, HRAS, LZTR1, RIT1, SHOC2, CBL, FGFR2, FGFR3, EYA1, SALL4, COL4A1, COL1A1, COL2A1, COL3A1, TUBA1A, TUBB3, TUBB2B, TUBA8, EFNB1, EFNB2, EFNB3, FLNA, HOXA1, PAX2, PAX6, PAX9, TGFBR1, TGFBR2, ALDH1A2, RAB3GAP1, RAB3GAP2, TTC21B, RAB23.
