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  2. Likely inborn error of metabolism
  3. GLUD1
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Likely inborn error of metabolism

Gene: GLUD1

Green List (high evidence)
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: Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorders 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: 8 Jan 2019, 12:13 p.m.
Created: 8 Jan 2019, 12:13 p.m.

Panel version: 0.25

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
  • Hyperinsulinism-hyperammonemia syndrome, 606762
OMIM
138130
Clinvar variants
Variants in GLUD1
Penetrance
None
Publications
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

11 Feb 2021, Gel status: 3

Clear Sources

Eleanor Williams (Genomics England Curator)

Source: Expert Review Red was removed from gene: GLUD1

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GLUD1. Source London North GLH was added to GLUD1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

8 Jan 2019, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for gene: GLUD1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 for gene: GLUD1

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GLUD1 was added gene: GLUD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLUD1 were set to 27604308 Phenotypes for gene: GLUD1 were set to Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias); Hyperinsulinism-hyperammonemia syndrome, 606762