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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 |