Aminoacidopathy
Gene: NAGSEnsemblGeneIds (GRCh38): ENSG00000161653
EnsemblGeneIds (GRCh37): ENSG00000161653
OMIM: 608300, Gene2Phenotype
NAGS is in 9 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease with reported individuals having an urea cycle disorder.
Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 26/07/2019 - https://search.clinicalgenome.org/CCID:005562
Sources: ClinGenCreated: 19 Jun 2024, 6:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377
- OMIM
- 608300
- Clinvar variants
- Variants in NAGS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nags has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nags has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: NAGS was added gene: NAGS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGS were set to 15714518; 27037498; 22503289 Phenotypes for gene: NAGS were set to hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377 Review for gene: NAGS was set to GREEN