Ehlers-Danlos syndrome, NGS
Identify genetic variants causing Ehlers-Danlos syndrome; management of connective tissue disorder.
Genelist (65): ABCC6, ACTA2, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6AP1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, LOX, LTBP4, LZTS1, P3H1, PLOD1, PLP1, PRDM5, PYCR1, RIN2, ROBO3, SKI, SLC39A13, SLC39A13, SMAD2, SMAD3, SPARC, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469
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Identify genetic variants causing Ehlers-Danlos syndrome; management of connective tissue disorder.
Genelist (65): ABCC6, ACTA2, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6AP1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, LOX, LTBP4, LZTS1, P3H1, PLOD1, PLP1, PRDM5, PYCR1, RIN2, ROBO3, SKI, SLC39A13, SLC39A13, SMAD2, SMAD3, SPARC, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469