GC_12 Connective tissue disease

Connective tissue diseases are inherited disorders affecting the extracellular matrix and may lead to abnormalities of the skin, joints, skeleton, eyes, and cardiovascular system. Clinical manifestations commonly include skin hyperextensibility or laxity, joint hypermobility, skeletal abnormalities, ophthalmologic findings, and cardiovascular complications such as aortic aneurysm or dissection.

This panel includes genes associated with the major heritable connective tissue disorders, including Ehlers-Danlos syndromes, Marfan syndrome, Loeys-Dietz syndrome, inherited aortopathies, osteogenesis imperfecta, and other disorders affecting extracellular matrix structure and function.

This panel is recommended for patients with a suspected hereditary connective tissue disorder and/or inherited aortopathy, particularly in the presence of generalized connective tissue manifestations, early-onset vascular disease, or overlapping syndromic features.

Last update: 26.01.2026

ABCC6, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, AEBP1, ALDH18A1, ARIH1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, DCC, DCHS1, DSE, EFEMP1, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FOXE3, GGCX, GORAB, HCN4, IPO8, LEMD3, LOX, LOXL3, LTBP1, LTBP2, LTBP3, LTBP4, LZTS1, MAT2A, MED12, MFAP5, MYH11, MYLK, NOG, NOTCH1, P3H1, PIEZO2, PKD2, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, ROBO3, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SPARC, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THBS2, THSD4, TNXB, UPF3B, ZNF469

ClinVar P/LP variants (IDs) not covered: FBN1: [3769620]; [3769623]; [3769614]; [3769613]; [3769618]; [3769624] | SMAD4: [3445838] | ZNF469: [974045]; [974146]; [974324]; [974021]; [974113]