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Fetal anomalies

Gene: NAE1

Amber List (moderate evidence)
NAE1 (NEDD8 activating enzyme E1 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000159593
EnsemblGeneIds (GRCh37): ENSG00000159593
OMIM: 603385, Gene2Phenotype
NAE1 is in 2 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Esther Kinning (NHS Greater Glasgow and Clyde)

Green List (high evidence)

On R27, 4 cases, all had corpus callosum anomlay and ventriculomegaly, one had VSD and cooart, one had cleft palate. Also causes severe dev de, dysmorpism, bony anomalies
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
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
OMIM
603385
Clinvar variants
Variants in NAE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: NAE1 was added gene: NAE1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAE1 were set to 36608681 Phenotypes for gene: NAE1 were set to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, OMIM:620210; neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MONDO:0859361