PanelApp (test)
  1. Genes and Genomic Entities
  2. NAMPT:Ensemblv90

NAMPT:Ensemblv90

nicotinamide phosphoribosyltransferase
OMIM: 608764, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red NAMPT in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • hereditary motor and sensory neuropathy MONDO:0015358

Red NAMPT in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • hereditary motor and sensory neuropathy MONDO:0015358

    Red NAMPT in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • hereditary motor and sensory neuropathy MONDO:0015358