Moyamoya disease is a cerebrovascular disease in which the terminal ends of the internal carotid arteries and their branches are gradually progressively stenosis and occlusion on cerebrovascular angiography， as well as smoke-like vascular proliferation. Some patients have stenosis or occlusion of the posterior cerebral artery. Genetic factors are involved in the occurrence and progression of this disease. The ring finger protein 213 （RNF213） gene is the main susceptibility gene for moyamoya disease. The polymorphism of this gene is associated with the patient's age of onset， family history， distribution of affected blood vessels， form of onset， and formation of collateral circulation. This gene is expected to become a nucleic acid marker for different phenotypes of moyamoya disease， so that clinical workers can take appropriate intervention measures in time. This article reviews the research progress of RNF213 gene and clinical phenotype of moyamoya disease.