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!
Association between C5orf47 and neuromyelitis optica is currently supported by limited genetic data. In a Finnish cohort of five NMO patients, exome and regulatory region sequencing identified four missense variants shared by two individuals across C3ORF20, PDZD2, C5orf47, and ZNF606, with one of these affecting C5orf47 (PMID:26616883). No single rare variant was common to all cases, and family segregation analysis was not performed. Functional studies evaluating the impact of C5orf47 variants on protein function or disease pathogenesis have not been reported. The absence of recurring alleles across additional cohorts and lack of mechanistic evidence precludes stronger causal inference. Further large-scale and functional investigations are required to establish any role of C5orf47 in NMO risk. Key take-home: current evidence is insufficient to support clinical genetic testing of C5orf47 in neuromyelitis optica.
Gene–Disease AssociationLimitedRare missense variants identified in two of five unrelated NMO patients, without segregation or functional follow-up ([PMID:26616883]). Genetic EvidenceLimitedTwo independent probands harbor rare C5orf47 missense changes; no familial segregation data. Functional EvidenceNo evidenceNo experimental or functional studies reported for C5orf47 in the context of NMO. |