Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
N - acetylglutamate synthase deficiency
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least homozygous variants reported in two studies
Created: 17 Aug 2016, 2:15 p.m.
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for NAGS were set to N-acetylglutamate synthase deficiency 237310
Mode of inheritance for NAGS was changed to BIALLELIC, autosomal or pseudoautosomal
NAGS was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory
NAGS was added to Hyperammonaemiapanel. Sources: UKGTN