Pain syndromesGene: NMNAT2
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.
Created: 10 Oct 2019, 2:47 p.m. | Last Modified: 10 Oct 2019, 2:47 p.m.
Panel Version: 1.9
PMID:31132363, Huppke et al., 2019 report a homozygous missense variant (c.281C>T (T94M) in NMNAT2 in 2 siblings with childhood-onset polyneuropathy with erythromelalgia. Erythromelalgia is a rare clinical syndrome characterized by intermittent attacks of intense burning pain with redness and swelling.
Created: 10 Oct 2019, 2:45 p.m. | Last Modified: 10 Oct 2019, 2:45 p.m.
Panel Version: 1.8
Strong evidence of a key role in axon survival from mouse studies (PMID 20126265 and other studies).
Created: 11 Sep 2019, 9:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: nmnat2 has been classified as Red List (Low Evidence).
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