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SLFN12 has been implicated in the molecular pathology of Sezary syndrome based on recent exome sequencing evidence (PMID:24689486). In the reported index case, a novel somatic missense mutation was identified in SLFN12, suggesting a potential role in the disease’s pathogenesis. However, screening in an additional nine patients did not reveal recurrent SLFN12 alterations (PMID:24689486), which limits the current genetic evidence. The lack of familial segregation data further contributes to the uncertainty regarding its broader clinical impact. Functional evidence is also sparse, with no detailed experimental assessments available to support a definitive pathogenic mechanism for SLFN12 in Sezary syndrome. These findings indicate that while SLFN12 is a promising candidate gene, the evidence remains limited and warrants further validation in larger cohorts and functional studies. Key take‑home sentence: SLFN12 represents a potential diagnostic marker in Sezary syndrome, but additional research is essential to establish its clinical utility.
Gene–Disease AssociationLimitedOnly 1 index proband with a novel somatic missense mutation in SLFN12 identified by exome sequencing (PMID:24689486), with no recurrence in nine additional patients and lacking segregation data. Genetic EvidenceLimitedSLFN12 genetic evidence is limited to a single somatic mutation in one case (PMID:24689486) without supportive segregation or replication in additional cases. Functional EvidenceLimitedNo detailed functional studies have been provided to elucidate the pathogenic mechanism of SLFN12 in Sezary syndrome, warranting further experimental validation (PMID:24689486). |