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PROCA1 (HGNC:28600) has recently emerged as a candidate gene in individuals with intellectual disability (MONDO_0001071). In a prospective genomic study of 337 subjects, PROCA1 was nominated alongside other genes bearing de novo and recessive variants (PMID:27431290). Although the precise number of unrelated probands with PROCA1 variants has not been delineated, its identification in both individual case reports and multi‑patient analyses supports a tentative gene‑disease association.
The inheritance pattern for PROCA1‐related intellectual disability appears to be autosomal recessive; however, detailed segregation analyses and variant‑level evidence remain limited. Furthermore, no functional assays or animal/cellular model studies have been reported to clarify its pathogenic mechanism. Key take‑home: Although preliminary genetic evidence suggests that PROCA1 may contribute to intellectual disability, additional comprehensive studies are needed to validate its clinical utility.
Gene–Disease AssociationLimitedPROCA1 is reported as a candidate gene in genomic analyses of intellectual disability, but with minimal independent proband and segregation data (PMID:27431290). Genetic EvidenceLimitedWhile PROCA1 variants have been identified in multi‑patient studies, the lack of detailed variant-level data and clear segregation limits the strength of genetic evidence. Functional EvidenceLimitedNo functional assays or experimental studies have been reported to elucidate the pathogenic mechanism for PROCA1. |