GC_37 Vascular Malformations

Inherited vascular malformations are disorders affecting the development, structure, or integrity of blood and lymphatic vessels. They may result in capillary, venous, lymphatic, arteriovenous, or mixed vascular malformations and may present with cutaneous vascular lesions, recurrent bleeding, arteriovenous malformations, aneurysms, cerebrovascular complications, tissue overgrowth, or multisystem vascular disease.

This panel includes genes associated with inherited vascular malformation syndromes, including hereditary hemorrhagic telangiectasia, capillary malformation–arteriovenous malformation syndrome, cerebral cavernous malformations, hereditary lymphedema, vascular overgrowth syndromes, and other genetic vasculopathies.

This panel is recommended for patients with unexplained or multiple vascular malformations, hereditary hemorrhagic telangiectasia, familial or syndromic vascular lesions, vascular overgrowth, or multisystem vascular disease when a broad vascular genetics evaluation is appropriate.

Last update: 19.01.2026

ABCC6, ACTA2, ACVRL1, ADA2, ANGPTL6, ANO1, ATP7A, ATR, CBL, CCER2, CCM2, CEP152, CHD4, CNOT3, COL3A1, COL4A1, COL4A2, COL5A1, DIAPH1, ELMO2, ENG, EPHB4, FLVCR2, FOXM1, GDF2, GLA, GLMN, GUCY1A1, HBB, HTRA1, IRAG1, ITGB1, KEL, KRIT1, MYH11, NF1, NOS3, NOTCH3, PCNT, PDCD10, PIK3CA, PKD1, PKD2, PTEN, RASA1, RNF213, SAMHD1, SETD5, SLC2A10, SMAD3, SMAD4, SMAD9, SOX18, STAMBP, TEK, TGFB3, TGFBR1, TGFBR2, THSD1, YY1AP1, tgfb2

ClinVar P/LP variants (IDs) not covered: GLA:[1678527] | HBB:[869331] | NF1:[242478]; [3404745] | PKD1:[3780893] | PTEN:[2587202] | SMAD4:[3445838]