Paroxysmal central nervous system disorders

Gene: NMNAT2

Red List (low evidence)

NMNAT2 (nicotinamide nucleotide adenylyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157064
EnsemblGeneIds (GRCh37): ENSG00000157064
OMIM: 608701, Gene2Phenotype
NMNAT2 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

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.
Sources: Other
Created: 24 Sep 2019, 2:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
polyneuropathy; erythromelalgia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • polyneuropathy
  • erythromelalgia
OMIM
608701
Clinvar variants
Variants in NMNAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: NMNAT2 were set to 31132363

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: nmnat2 has been classified as Red List (Low Evidence).

24 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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