NMNAT2

nicotinamide nucleotide adenylyltransferase 2
OMIM: 608701, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NMNAT2 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • polyneuropathy
  • erythromelalgia
  • Hydrops fetalis and multiple fetal anomalies

Amber NMNAT2 in Pain syndromes


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Research
  • Genomics England PanelApp
Phenotypes
  • polyneuropathy
  • erythromelalgia

Amber NMNAT2 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Hydrops fetalis and multiple fetal anomalies
  • polyneuropathy
  • erythromelalgia