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CPNE6 has been identified as a candidate gene in the context of intellectual disability based on large‐scale genomic evaluations. In a study of 337 individuals with intellectual disability (PMID:27431290), CPNE6 was recurrently included among a panel of genes harboring potential pathogenic variants. The majority of point mutations in the study were found to be autosomal recessive, although no CPNE6‐specific segregation data (e.g. affected relatives) were reported. This evidence, limited to its identification in exome sequencing candidate gene lists, suggests an initial association that requires further dissection.
No functional assays, animal models, or rescue experiments have been reported that specifically address the function or pathogenic mechanism of CPNE6 in intellectual disability. Consequently, the experimental evidence remains sparse and does not yet corroborate the genetic findings. Additional studies—including segregation analyses and targeted functional assessments—are warranted before CPNE6 can be definitively integrated into clinical decision‑making. Key take‑home: CPNE6 is a promising candidate gene for intellectual disability, but its clinical utility awaits further validation.
Gene–Disease AssociationLimitedCPNE6 was identified as a candidate gene in a large exome sequencing study of 337 ID subjects (PMID:27431290); however, there is a lack of CPNE6‐specific segregation and functional evidence. Genetic EvidenceLimitedWhile CPNE6 appeared recurrently among candidate genes in multi‐patient studies, there are no reported CPNE6‐specific variants or segregation data to strengthen the genetic evidence. Functional EvidenceLimitedNo CPNE6‐specific functional assays or animal model studies have been published, limiting the experimental support for its pathogenic role in intellectual disability. |