NAE1

NEDD8 activating enzyme E1 subunit 1
OMIM: 603385, Gene2Phenotype

2 panels

Panel	Reviews	Mode of inheritance	Details
Amber NAE1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MONDO:0859361 Tags Q3_26_promote_green
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

Panel

Reviews

Mode of inheritance

Details

Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review

BIALLELIC, autosomal or pseudoautosomal

Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, OMIM:620210
neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MONDO:0859361

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

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