Gen-Panel
Bindegewebserkrankungen mit Herzbeteiligung (EDS, MFS, LDS): ID137.06, 85 Gene
ABCC6,
ABL1,
ACTA2,
ADAMTS2,
ADAMTS10,
ADAMTS17,
ADAMTSL4,
AEBP1,
ALDH18A1,
ASPH,
ATP6V0A2,
ATP6V1A,
ATP6V1E1,
ATP7A,
B3GALT6,
B4GALT7,
BGN,
C1R,
C1S,
CBS,
CHST14,
COL1A1,
COL1A2,
COL2A1,
COL3A1,
COL4A1,
COL5A1,
COL5A2,
COL6A1,
COL6A2,
COL6A3,
COL9A1,
COL9A2,
COL9A3,
COL11A1,
COL11A2,
COL12A1,
DCC,
DLG4,
DSE,
EFEMP1,
EFEMP2,
ELN,
FBLN5,
FBN1,
FBN2,
FKBP14,
FLNA,
FOXE3,
GORAB,
IPO8,
LOX,
LTBP1,
LTBP2,
LTBP4,
MAT2A,
MED12,
MFAP5,
MYH11,
MYLK,
NKAP,
NOTCH1,
PLOD1,
PLOD3,
PRDM5,
PRKG1,
PYCR1,
RIN2,
ROBO3,
ROBO4,
SKI,
SLC2A10,
SLC39A13,
SMAD2,
SMAD3,
SMAD4,
SMAD6,
TGFB2,
TGFB3,
TGFBR1,
TGFBR2,
THBS2,
THSD4,
TNXB,
ZNF469
Inkludierte Phänotypen
Cutis laxa-Syndrom (ARCL, ADCL): 12 Gene
ALDH18A1,
ATP6V0A2,
ATP6V1A,
ATP6V1E1,
ATP7A,
EFEMP1,
EFEMP2,
ELN,
FBLN5,
LTBP1,
LTBP4,
PYCR1
Ehlers-Danlos-Syndrom (EDS): 21 Gene
ADAMTS2,
AEBP1,
B3GALT6,
B4GALT7,
C1R,
C1S,
CHST14,
COL1A1,
COL1A2,
COL3A1,
COL5A1,
COL5A2,
COL12A1,
DSE,
FKBP14,
PLOD1,
PRDM5,
SLC39A13,
THBS2,
TNXB,
ZNF469
Loeys-Dietz-Aortenaneurysma-Syndrom (LDS): 18 Gene
ACTA2,
COL3A1,
FBN1,
FOXE3,
IPO8,
LOX,
MFAP5,
MYH11,
MYLK,
PRKG1,
SLC2A10,
SMAD2,
SMAD3,
TGFB2,
TGFB3,
TGFBR1,
TGFBR2,
THSD4
Marfan-Syndrom (MFS): 3 Gene
FBN1,
TGFBR1,
TGFBR2
Stickler-Syndrom (STL): 6 Gene
COL2A1,
COL9A1,
COL9A2,
COL9A3,
COL11A1,
COL11A2
Weill-Marchesani-Syndrom (WMS): 4 Gene
ADAMTS10,
ADAMTS17,
FBN1,
LTBP2
