NAE1

NEDD8 activating enzyme E1 subunit 1
OMIM: 603385, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Green NAE1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) 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

Panel

Reviews

Mode of inheritance

Details

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Paediatric disorders

review

BIALLELIC, autosomal or pseudoautosomal

NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration