Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: NAGS

Green List (high evidence)

NAGS (N-acetylglutamate synthase)
EnsemblGeneIds (GRCh38): ENSG00000161653
EnsemblGeneIds (GRCh37): ENSG00000161653
OMIM: 608300, Gene2Phenotype
NAGS is in 9 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

N-acetylglutamate synthase deficiency MIM#237310 is characterized by hyperammonemia in the newborn period or later, within the first 5 years of life, and can be fatal or lead to severe mental retardation and developmental disabilities.

Variable phenotype depending on residual enzyme activity (OMIM):
- Patients with null mutations have neonatal onset.
- Patients with residual enzyme activity have childhood or adult onset.

Early onset patients are indistinguishable from those with carbamoyl phosphate synthetase I (CPS1) deficiency (237300) (OMIM).
Created: 14 Jan 2025, 6:16 a.m. | Last Modified: 14 Jan 2025, 6:16 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
N-acetylglutamate synthase deficiency MIM#237310

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • N-acetylglutamate synthase deficiency MIM#237310
OMIM
608300
Clinvar variants
Variants in NAGS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nags has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAGS were changed from N-acetylglutamate synthase deficiency, 237310 (3) to N-acetylglutamate synthase deficiency MIM#237310

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NAGS were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes N-acetylglutamate synthase deficiency, 237310 (3) for gene: NAGS

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAGS was added gene: NAGS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3)