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All forms of schwannomatosis predispose to the development of multiple schwannomas, but display differences in tumour location and long-term prognosis. In addition, high levels of mosaic disease can complicate clinical diagnosis. Genetic diagnosis can be critical for distinguishing between the three conditions to optimise clinical management, especially in cases of mosaic disease. This review summarises the distinctions between the clinical and genetic characteristics of each form of schwannomatosis and discusses the genetic analytic tools that are typically used to detect the variants found in these conditions.\n                  <\/jats:p>","DOI":"10.1007\/s10689-025-00507-2","type":"journal-article","created":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T07:18:40Z","timestamp":1763968720000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies"],"prefix":"10.1007","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3184-0817","authenticated-orcid":false,"given":"Miriam J.","family":"Smith","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,24]]},"reference":[{"key":"507_CR1","doi-asserted-by":"publisher","first-page":"1967","DOI":"10.1016\/j.gim.2022.05.007","volume":"24","author":"SR Plotkin","year":"2022","unstructured":"Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, International Consensus Group on Neurofibromatosis Diagnostic C, Yohay K, Huson SM, Wolkenstein P, Evans DG (2022) Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation. 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