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Hyperammonaemia

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with urea cycle defect presenting as neonatal onset life-threatening hyperammonemia.
Created: 7 Mar 2022, 11:20 p.m. | Last Modified: 7 Mar 2022, 11:20 p.m.
Panel Version: 0.11192

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
N-acetylglutamate synthase deficiency - MIM#237310

Publications

Created: 7 Mar 2022, 11:20 p.m.
Last Modified: 7 Mar 2022, 11:20 p.m.
Panel version: Imported from Mendeliome panel version 0.11192

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • N-acetylglutamate synthase deficiency 237310
OMIM
608300
Clinvar variants
Variants in NAGS
Penetrance
None
Panels with this gene

History Filter Activity

29 Jan 2021, 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 Hyperammonaemia. Sources: Genomics England PanelApp,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