For laboratories using a WES-based approach it is easy to open their analysis to the genes involved in hereditary vascular malformations based on the patient’s phenotype (e.g. KRIT1 for patients with hyperkeratotic cutaneous capillary‐venous malformations, and RASA1, EPHB4, ENG1, ACVRL1, SMAD4, PTEN for AVM). The gene discussed is SMAD4; the disease is vascular malformation.