Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
The association between SYDE2 and intellectual disability is currently supported by candidate gene nomination in a large-scale exome sequencing study involving 337 subjects with intellectual disability (PMID:27431290). In both single‐patient and multi‐patient study contexts, SYDE2 was included among a panel of genes implicated in autosomal recessive inheritance, consistent with the high consanguinity observed in the cohort. However, no individual variant for SYDE2 has been reported, and there is a lack of segregation data or detailed variant-level evidence for this gene, which limits the strength of the association. Functional evidence is also not available, as no experimental studies have been published that directly address the impact of SYDE2 variants on protein function or provide mechanistic insights into disease pathogenesis. The genetic signal for SYDE2 is based solely on its inclusion in a multi‐gene panel, and despite the overall high diagnostic yield of the genomic approach, the role of SYDE2 remains preliminary. Consequently, while SYDE2 is a promising candidate gene for intellectual disability, the current evidence warrants a cautious interpretation when used for diagnostic decision-making and commercial applications.
Gene–Disease AssociationLimitedAssociation based on inclusion in a large-scale panel study of 337 individuals with intellectual disability (PMID:27431290); however, no specific SYDE2 variants or segregation data were provided. Genetic EvidenceLimitedGenetic evidence derives solely from candidate gene nomination without reported individual variant details for SYDE2. Functional EvidenceLimitedNo experimental studies or functional assays have been reported that validate a role for SYDE2 in intellectual disability. |