NAE1

NEDD8 activating enzyme E1 subunit 1
OMIM: 603385, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NAE1 in Mendeliome


Version 1.3835

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210

Green NAE1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210

Green NAE1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.525

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210