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SEC61B has emerged as a candidate gene in recent studies evaluating the genetic basis of autosomal dominant polycystic kidney disease (ADPKD). Candidate gene reviews and population sequencing studies have identified SEC61B variants in affected individuals, suggesting a potential but still limited association. The autosomal dominant inheritance pattern is consistent with the broader spectrum of cystic kidney diseases, yet the number of reported probands and segregation data remains sparse (PMID:35571028) (PMID:30135240).
While genetic evidence supports SEC61B as a plausible contributor to ADPKD, functional and experimental validation is currently limited. There is a need for dedicated assays, including animal and cellular models or rescue experiments, to confirm the pathogenic mechanisms. Additional studies reporting segregation analysis and detailed variant characterization will be essential to corroborate this association. Key take‑home sentence: SEC61B should be considered a candidate gene for ADPKD pending further functional and segregation validation to guide diagnostic decision‑making.
Gene–Disease AssociationLimitedA limited number of patients have been reported with SEC61B variants. Candidate gene studies and prevalence data suggest an association with ADPKD, although extensive segregation and functional data are currently lacking (PMID:35571028 PMID:30135240). Genetic EvidenceLimitedGenetic evidence is restricted to candidate gene reports with few probands and minimal segregation data, limiting robust conclusions regarding pathogenicity. Functional EvidenceLimitedNo dedicated functional assays or experimental models have been reported to validate the impact of SEC61B variants in ADPKD, underscoring the need for further study. |