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C3orf20 has been investigated as a candidate risk gene for Neuromyelitis Optica in a Finnish cohort of five patients via whole exome, HLA, and regulatory region sequencing (PMID:26616883). Two unrelated individuals harboured distinct rare missense variants in C3orf20, but no variant was shared across all cases and there was no familial segregation or functional validation reported. This limited genetic evidence does not support a definitive role for C3orf20 in NMO pathogenesis. Additional large‐scale studies and experimental assays are required to clarify any contribution of C3orf20 variants to NMO risk.
Gene–Disease AssociationLimitedTwo unrelated probands with rare missense variants; no segregation or functional data ([PMID:26616883]) Genetic EvidenceLimitedRare missense variants identified in 2 of 5 patients; absent familial or segregation support Functional EvidenceNoneNo experimental or functional studies reported |