Hyperammonaemia
Gene: NAGS

NAGS (N-acetylglutamate synthase)
EnsemblGeneIds (GRCh38): ENSG00000161653
EnsemblGeneIds (GRCh37): ENSG00000161653
OMIM: 608300, Gene2Phenotype
NAGS is in 7 panels

3 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
N - acetylglutamate synthase deficiency

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

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.

Created: 17 Aug 2016, 2:15 p.m.

Panel version: 0.19

Ellen McDonagh (Genomics England Curator)

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.

Created: 5 Nov 2015, 5:19 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
UKGTN

Phenotypes

N-acetylglutamate synthase deficiency 237310

OMIM

608300

Clinvar variants

Variants in NAGS

Penetrance

Complete

Panels with this gene