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TUBAL3 has been nominated as a candidate gene for intellectual disability based on a large multi‑patient genomic study that assessed the diagnostic yield of various genomic tools (PMID:27431290). In this study of 337 subjects, while most identified causative genes had multiple independent pathogenic variants and clear segregation evidence, TUBAL3 emerged solely from the statistical analysis within a cohort characterized by a high proportion of recessive variants. No specific recurrent or founder mutations were reported for TUBAL3, and detailed segregation data for affected relatives was not provided, limiting the overall strength of the evidence.
The genetic implication of TUBAL3 in intellectual disability is currently categorized as limited due to the absence of clearly defined pathogenic variants and a lack of targeted functional studies. Without direct experimental validation or robust replication in multiple families, the mechanistic role of TUBAL3 remains uncertain. Nevertheless, the association highlights the promise of next‑generation sequencing strategies to uncover novel candidates, underscoring the potential for future research to establish its clinical utility in the diagnostic evaluation of intellectual disability.
Gene–Disease AssociationLimitedTUBAL3 was identified as a candidate gene in a single, large multi‑patient genomic study of intellectual disability (PMID:27431290), with no reported recurrent variants or detailed segregation analysis. Genetic EvidenceLimitedThere are no specific pathogenic variants reported for TUBAL3; its implication derives solely from statistical association in exome analyses (PMID:27431290). Functional EvidenceLimitedNo direct functional or experimental studies have been reported for TUBAL3, limiting the evidence for a pathogenic mechanism. |