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Gene-Disease Associations and Genetic Testing Recommendations

This dedicated page provides insights into gene-disease associations and genetic testing recommendations for vascular malformations, highlighting the importance of diagnostic genetic testing for somatic variants in patients with vascular malformations. These recommendations have been published in the Orphanet Journal of Rare Diseases, you can read it here.

This initiative is a collaboration among experts from 11 European centers, aimed at refining genetic testing to better diagnose and treat vascular anomalies. These experts have identified 24 key genes associated with these vascular malformations, based on current practices, ISSVA classifications, and comprehensive reviews. They also assessed 45 gene–phenotype associations, categorizing them into definitive, strong, moderate, limited, and no evidence groups.

This page will be regularly updated to offer a vital resource for healthcare professionals and researchers in the vascular anomaly field. For specific questions, please contact us here.

Click the link below to access the table of gene disease associations and recommendations

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