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Possible mitochondrial disorder - nuclear genes

Gene: GLUD1

Red List (low evidence)

GLUD1 (glutamate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000148672
EnsemblGeneIds (GRCh37): ENSG00000148672
OMIM: 138130, Gene2Phenotype
GLUD1 is in 12 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Hyperinsulinism-hyperammonemia syndrome, 606762

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: GLUD1 was added gene: GLUD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLUD1 were set to Hyperinsulinism-hyperammonemia syndrome, 606762