Hyperammonaemia
Gene: GLUD1

GLUD1 (glutamate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000148672
EnsemblGeneIds (GRCh37): ENSG00000148672
OMIM: 138130, Gene2Phenotype
GLUD1 is in 11 panels

4 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

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. Numerous variants reported
Created: 18 Aug 2016, 9:14 a.m.

Created: 18 Aug 2016, 9:14 a.m.

Panel version: 0.26

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

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance: A variant on one allele of this gene can cause the disease, and imprinting has not been implicated. Mode of pathogenicity: Gain of function.
Created: 5 Nov 2015, 4:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinism-hyperammonemia syndrome, 606762

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 5 Nov 2015, 4:51 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Hyperinsulinism-hyperammonemia syndrome, 606762

OMIM

138130

Clinvar variants

Variants in GLUD1

Penetrance

Complete

Publications

Panels with this gene