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Pain syndromes

Gene: NMNAT2

Amber List (moderate evidence)
NMNAT2 (nicotinamide nucleotide adenylyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157064
EnsemblGeneIds (GRCh37): ENSG00000157064
OMIM: 608701, Gene2Phenotype
NMNAT2 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single family with siblings with a homozygous variant that confers a partial loss of function. Strong supporting functional evidence that the gene plays a key role in axonal survival.
Created: 25 Feb 2021, 6:04 a.m. | Last Modified: 25 Feb 2021, 6:04 a.m.
Panel Version: 0.7

Phenotypes
Polyneuropathy with erythromelalgia

Publications

Created: 25 Feb 2021, 6:04 a.m.
Last Modified: 25 Feb 2021, 6:04 a.m.
Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Research
  • Genomics England PanelApp
Phenotypes
  • polyneuropathy
  • erythromelalgia
OMIM
608701
Clinvar variants
Variants in NMNAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2021, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NMNAT2 were set to 31132363

25 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nmnat2 has been classified as Amber List (Moderate Evidence).

25 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nmnat2 has been classified as Amber List (Moderate Evidence).

1 Apr 2020, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert Review Red was added to NMNAT2. Source Research was added to NMNAT2. Added phenotypes polyneuropathy; erythromelalgia for gene: NMNAT2 Rating Changed from Green List (high evidence) to Red List (low evidence)

1 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NMNAT2 was added gene: NMNAT2 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green 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