1. Genes and Genomic Entities
  2. NAE1

NAE1

NEDD8 activating enzyme E1 subunit 1
OMIM: 603385, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green NAE1 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration