Clinical Domain Working Groups

The ENDO-TPS VCEP is composed of 3 main subcommittees, 1) SDHx-related paraganglioma syndrome (SDHAF2, SDHA, SDHB, SDHC, SDHD) and TMEM127/MAX – related hereditary pheochromocytoma/paraganglioma syndrome, 2) Multiple Endocrine Neoplasia Type 2 syndrome (RET) and 3) Multiple Endocrine Neoplasia Type 1 (MEN1) and related syndromes (CDKN1B, CDC73). All proposed genes have ClinGen Gene-Disease Validity curations for their respective endocrine indication (hereditary pheochromocytoma-paraganglioma (MONDO:0017366); multiple endocrine neoplasia type 2A (MONDO:0008234); multiple endocrine neoplasia type 2B (MONDO:0008082); multiple endocrine neoplasia type 1 (MONDO:0007540); multiple endocrine neoplasia type 4 (MONDO:0012552); hyperparathyroidism 2 with jaw tumors (MONDO:0007768)) and have been assigned “definitive” classifications. As there is an anticipated updated ACMG classification document pending, we plan to initiate our work, using the new protocol/document as part of the basis of our ENDO-TPS VCEP specifications.