PanelApp
  1. Genes and Genomic Entities
  2. NAGS

NAGS

N-acetylglutamate synthase
OMIM: 608300, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green NAGS in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • N-acetylglutamate synthase deficiency - MIM#237310

Green NAGS in Additional findings_Adult


Level 2: Screening
Version 1.130

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • N-acetylglutamate synthase deficiency - MIM#237310

Red NAGS in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 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 0.110

0 reviews 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

0 reviews 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

    		•  1 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 2.14

    		1 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 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377

    Green NAGS in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews 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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • N-acetylglutamate synthase deficiency MIM#237310