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PITPNM3 has been implicated in autosomal dominant cone and cone-rod dystrophies based on two large Swedish families with segregating variants (PMID:20590364). Subsequent screening of 163 unrelated patients from Denmark, Germany, the UK, and the USA identified four PITPNM3 sequence variants (two missense, two intronic) but no clear genotype–phenotype correlation, indicating a minor role in disease (PMID:20590364). No functional or mechanistic studies have been reported to support pathogenicity or clarify the disease mechanism.
Gene–Disease AssociationLimited2 families with autosomal dominant inheritance; minimal unrelated probands; lack of extensive segregation or functional data Genetic EvidenceLimitedVariants reported in 2 families; screening of 163 patients yielded 4 PITPNM3 variants of uncertain significance Functional EvidenceLimitedNo functional or experimental studies reported for PITPNM3 in cone-rod dystrophy |