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Pain syndromes v1.9 NMNAT2 Rebecca Foulger Classified gene: NMNAT2 as Red List (low evidence)
Pain syndromes v1.9 NMNAT2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red. Gene was added to the panel and rated Green by external expert Michael Coleman (11 Sept 2019). Currently insufficient evidence for a Green rating: one case (2 siblings) with pain disorder in PMID:31132363, and a mouse model. Not currently associated with a phenotype in OMIM or Gene2Phenotype. Therefore rated Red awaiting further evidence.
Pain syndromes v1.9 NMNAT2 Rebecca Foulger Gene: nmnat2 has been classified as Red List (Low Evidence).
Pain syndromes v1.8 NMNAT2 Rebecca Foulger commented on gene: NMNAT2
Pain syndromes v1.6 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Pain syndromes. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363
Phenotypes for gene: NMNAT2 were set to polyneuropathy; erythromelalgia
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Strong evidence of a key role in axon survival from mouse studies (PMID 20126265 and other studies).
Sources: Research