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The association between PIANP and intellectual disability (MONDO_0001071) is supported by data from a large exome sequencing study of 337 individuals with intellectual disability (PMID:27431290). In this study, PIANP was identified as one of 32 candidate genes harboring recessive variants in a highly consanguineous cohort. Although the study provided robust genomic screening across a broad set of genes, the specific evidence linking PIANP to the phenotype remains limited, with no detailed segregation analysis or specific variant reported for this gene.
The genetic evidence for PIANP is currently classified as limited given the absence of individual variant details and the lack of further segregation or functional experimental data. Inheritance is consistent with an autosomal recessive model, which aligns with the overall findings in the cohort. No functional assays or animal models have yet been described to confirm the gene’s role in intellectual disability. Key take‑home: while preliminary exome data implicate PIANP as a potential contributor to intellectual disability, additional segregation and functional studies are necessary to support its clinical utility in diagnostic settings.
Gene–Disease AssociationLimitedA multi-patient exome sequencing study involving 337 individuals (PMID:27431290) identified PIANP among 32 candidate genes with recessive variants; however, the absence of detailed segregation and functional data limits clinical validity. Genetic EvidenceLimitedNo specific PIANP variant was reported in the study, and the evidence is derived solely from candidate gene nomination in a heterogeneous cohort. Functional EvidenceLimitedThere are no functional assays, expression studies, or experimental models available to validate a pathogenic role for PIANP in intellectual disability. |