Gen-Panel
Syndromale Schwerhörigkeit, umfassende Diagnostik: ID190.01, 109 Gene
ABHD12,
ADGRV1,
AFG2A,
AIFM1,
ALMS1,
ANKH,
ARSG,
ATP1A3,
ATP6V0A4,
ATP6V1B1,
BCAP31,
BCS1L,
BRAF,
BSND,
CACNA1D,
CATSPER2,
CD151,
CDH23,
CHD7,
CHSY1,
CIB2,
CISD2,
CLPP,
CLRN1,
COL2A1,
COL4A3,
COL4A4,
COL4A5,
COL9A1,
COL9A2,
COL9A3,
COL11A1,
COL11A2,
DCAF17,
DIAPH3,
DLX5,
DNMT1,
DSPP,
EDN3,
EDNRB,
ERAL1,
ESPN,
EXOSC2,
EYA1,
FGF3,
FGFR3,
FOXC1,
FOXI1,
GATA3,
GJA1,
GJB2,
GPSM2,
HARS1,
HARS2,
HSD17B4,
KCNE1,
KCNJ10,
KCNQ1,
KITLG,
LARS2,
LHX3,
LRP2,
MAF,
MANBA,
MITF,
MPZ,
MYH9,
MYH14,
MYO7A,
NLRP3,
PAX3,
PCDH15,
PDZD7,
PEX1,
PEX6,
PLOD3,
PMP22,
POLD1,
POLR1C,
POLR1D,
PRDM5,
PRPS1,
PTPN11,
RAF1,
RPGR,
RPS6KA3,
SALL1,
SALL4,
SEMA3E,
SIX1,
SIX5,
SLC4A11,
SLC19A2,
SLC26A4,
SLC52A2,
SLC52A3,
SNAI2,
SOX10,
TCOF1,
TFAP2A,
TIMM8A,
TWNK,
TYR,
USH1C,
USH1G,
USH2A,
WFS1,
WHRN,
ZNF469
Inkludierte Phänotypen
Alport-Syndrom (ATS): 4 Gene
COL4A3,
COL4A4,
COL4A5,
MYH9
CHARGE-Syndrom: 2 Gene
CHD7,
SEMA3E
LEOPARD-Syndrom (LPRD): 3 Gene
BRAF,
PTPN11,
RAF1
Perrault-Syndrom (PRLTS): 6 Gene
CLPP,
ERAL1,
HARS2,
HSD17B4,
LARS2,
TWNK
Stickler-Syndrom (STL): 6 Gene
COL2A1,
COL9A1,
COL9A2,
COL9A3,
COL11A1,
COL11A2
Usher-Syndrom (USH): 13 Gene
ADGRV1,
ARSG,
CDH23,
CIB2,
CLRN1,
HARS1,
MYO7A,
PCDH15,
PDZD7,
USH1C,
USH1G,
USH2A,
WHRN
Waardenburg-Syndrom (WS): 8 Gene
EDN3,
EDNRB,
KITLG,
MITF,
PAX3,
SNAI2,
SOX10,
TYR
HPO Terms
DDX11, KIAA1109, FLNA, FLNB, FBN1, FBN2, COL2A1, COL11A2, OPA1, PEX1, PKD1, PKD2, GJB2, POLG, NBEAL2, PIK3R1, LMX1B, TCF12
