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Over 40 causative genes have been identified to date, explaining up to 94% of cases. To date, gene\u2010phenotype correlates have been delineated only for a handful of genes, directly translating into improved counseling and clinical care. For instance, JS individuals harboring pathogenic variants in <jats:italic>TMEM67<\/jats:italic> have a significantly higher risk of liver fibrosis, while pathogenic variants in <jats:italic>NPHP1<\/jats:italic>, <jats:italic>RPGRIP1L<\/jats:italic>, and <jats:italic>TMEM237<\/jats:italic> are frequently associated to JS with renal involvement, requiring a closer monitoring of liver parameters, or renal functioning. On the other hand, individuals with causal variants in the <jats:italic>CEP290<\/jats:italic> or <jats:italic>AHI1<\/jats:italic> need a closer surveillance for retinal dystrophy and, in case of <jats:italic>CEP290<\/jats:italic>, also for chronic kidney disease. These examples highlight how an accurate description of the range of clinical symptoms associated with defects in each causative gene, including the rare ones, would better address prognosis and help guiding a personalized management. This review proposes to address this issue by assessing the available literature, to confirm known, as well as to propose rare gene\u2010phenotype correlates in JS.<\/jats:p>","DOI":"10.1002\/ajmg.c.31963","type":"journal-article","created":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T08:58:07Z","timestamp":1646297887000},"page":"72-88","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":112,"title":["Genotype\u2013phenotype correlates in Joubert syndrome: A review"],"prefix":"10.1002","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6544-7135","authenticated-orcid":false,"given":"Simone","family":"Gana","sequence":"first","affiliation":[{"name":"Neurogenetics Research Center IRCCS Mondino Foundation  Pavia 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