Paroxysmal central nervous system disordersGene: NMNAT2
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)
Created: 24 Sep 2019, 2:07 p.m. | Last Modified: 24 Sep 2019, 2:07 p.m.
Panel Version: 0.153
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.
Created: 24 Sep 2019, 2:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363
Gene: nmnat2 has been classified as Red List (Low Evidence).
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