Jill A Rabinowitz, Sally I-C Kuo, William Felder, Rashelle J Musci, Amie Bettencourt, Kelly Benke, Danielle Y Sisto, Emily Smail, George Uhl, Brion S Maher, Anthony Kouzis, Nicholas S Ialongo
Associations between an educational attainment polygenic score with educational attainment in an African American sample
Genes, brain, and behavior
vascular anomalies caused somatic postzygotic variants clinically genetically heterogeneous diseases overlapping distinct entities genetic knowledge field rapidly growing genetic testing part diagnostic workup alongside clinical radiological histopathological data nonetheless access genetic testing still limited significant heterogeneity across approaches used diagnostic laboratories direct consequences test sensitivity accuracy clinical utility genetic testing expected increase progressively improved theragnostics based information efficacy safety emerging drugs future molecules aim study make recommendations optimising guiding diagnostic genetic testing somatic variants patients vascular malformations physicians lab specialists 11 multidisciplinary european centres vascular anomalies reviewed genes identified date involved nonhereditary vascular malformations evaluated genedisease associations made recommendations technical aspects identification lowlevel mosaicism variant interpretation core list 24 genes selected based current practices participating laboratories issva classification literature total 45 genephenotype associations evaluated 16 considered definitive 16 strong 3 moderate 7 limited 3 evidence work provides detailed evidencebased view genedisease associations field vascular malformations caused somatic variants knowing genephenotype relationships strength associations greatly help laboratories data interpretation eventually clinical diagnosis study reflects state knowledge mid2023 regularly updated vascernvasca website vascernvasca httpsvascerneugroupevascularanomalies