Mitochondrial disorders
Gene: GLUD1

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

5 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
Created: 19 Jun 2019, 12:41 p.m.

Created: 19 Jun 2019, 12:41 p.m.

Panel version: 1.393

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

No link to mitochondrial disease & phenotype does not seem particularly similar to a mitochondrial condition
Created: 19 Jun 2019, 12:26 p.m.

Phenotypes
Hyperinsulinism-hyperammonemia syndrome, 606762

Created: 19 Jun 2019, 12:26 p.m.

Panel version: 1.388

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

Red - not considered a primary mitochondrial disorder; GLUD1 (glutamate dehydrogenase) functions in glutamate synthesis and catabolism.
Created: 11 Jun 2019, 3:59 p.m.

Phenotypes
Hyperinsulinism-hyperammonemia syndrome, 606762

Created: 11 Jun 2019, 3:59 p.m.

Panel version: 1.384

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Mutation consequence summary from G2P = activating. OMIM reports several missense variants.
Created: 2 Mar 2016, 12:21 p.m.

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 12:19 p.m.

Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for hyperinsulinism-hyperammonemia syndrome.
Created: 2 Mar 2016, 12:19 p.m.

Created: 2 Mar 2016, 12:19 p.m.

Panel version: 0.418

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Hyperinsulinism-hyperammonemia syndrome, 606762

OMIM

138130

Clinvar variants

Variants in GLUD1

Penetrance

Complete

Mode of Pathogenicity

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

Panels with this gene

History Filter Activity

19 Jun 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: glud1 has been classified as Red List (Low Evidence).

2 Mar 2016, Gel status: 4