PanelApp (staging)
  1. Genes and Genomic Entities
  2. NMNAT2

NMNAT2

nicotinamide nucleotide adenylyltransferase 2
OMIM: 608701, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NMNAT2 in Mendeliome


Version 1.2302

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 0.34

Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Amber NMNAT2 in Fetal anomalies


    Version 1.313

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