Newborns main panel
Gene: NAGS

NAGS (N-acetylglutamate synthase)
EnsemblGeneIds (GRCh38): ENSG00000161653
EnsemblGeneIds (GRCh37): ENSG00000161653
OMIM: 608300, Gene2Phenotype
NAGS is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: Can be caused by non-coding variants (PMID: 34510628).
Created: 26 Sep 2024, 3:52 p.m. | Last Modified: 26 Sep 2024, 3:52 p.m.

Panel Version: 0.469

Created: 26 Sep 2024, 3:52 p.m.
Last Modified: 26 Sep 2024, 3:52 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

NAGS curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

N-acetylglutamate synthase deficiency

Tags

special_consideration

OMIM

608300

Clinvar variants

Variants in NAGS

Penetrance

None

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: NAGS.

14 Sep 2023, Gel status: 3