NMNAT2:Ensemblv90

nicotinamide nucleotide adenylyltransferase 2
OMIM: 608701, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber NMNAT2 in Mendeliome


Version 1.3802

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 0.36

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 1.482

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

    Amber NMNAT2 in Pain syndromes


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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