Genomics England
GMS Panels
Panels
Genes and Entities

NAGS

N-acetylglutamate synthase
OMIM: 608300
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 237310
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias), N-acetylglutamate synthase deficiency