NAGS

N-acetylglutamate synthase
OMIM: 608300, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green NAGS in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes N-acetylglutamate synthase deficiency - MIM#237310
Red NAGS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes N-acetylglutamate synthase deficiency, MIM#237310
Green NAGS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes N-acetylglutamate synthase deficiency, 237310 (3)
Green NAGS in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes N-acetylglutamate synthetase deficiency
Green NAGS in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes N-acetylglutamate synthase deficiency 237310
Green NAGS in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes N-acetylglutamate synthase deficiency MIM#237310
Green NAGS in Aminoacidopathy Level 2: Metabolic disorders Version 1.133 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377
Green NAGS in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes N-acetylglutamate synthetase deficiency, MIM#237310 Tags treatable metabolic
Green NAGS in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes N-acetylglutamate synthase deficiency, 237310 (3)