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| Paroxysmal central nervous system disorders v0.154 | NMNAT2 | Rebecca Foulger Publications for gene: NMNAT2 were set to 31132363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.153 | NMNAT2 | Rebecca Foulger Classified gene: NMNAT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.153 | NMNAT2 | Rebecca Foulger Added comment: Comment on list classification: This gene has been rated Red until there is more information to support a gene-disease association. The current information in the literature does not support a Green rating as suggested by external reviewer on the 'Pain syndromes' panel: there are not sufficient cases, only an animal model (PMID:31136762) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.153 | NMNAT2 | Rebecca Foulger Gene: nmnat2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.152 | NMNAT2 |
Rebecca Foulger gene: NMNAT2 was added gene: NMNAT2 was added to Paroxysmal central nervous system disorders. Sources: Other 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 Review for gene: NMNAT2 was set to RED Added comment: Michael Coleman (University of Cambridge) added NMNAT2 to the 'Pain syndromes' panel and Rated Green with the comment: "Strong evidence of a key role in axon survival from mouse studies (PMID 20126265 and other studies)". I copied NMNAT2 to the Paroxysmal panel because 'Pain syndromes' was one of the panels used to create the initial Paroxysmal entity list. Publication PMID:31132363 and phenotypes 'polyneuropathy; erythromelalgia' were suggested by Michael Coleman. Sources: Other |
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