Likely inborn error of metabolism - targeted testing not possible
Gene: GLUD1Comment 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.
No link to mitochondrial disease & phenotype does not seem particularly similar to a mitochondrial conditionCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Hyperinsulinism-hyperammonemia syndrome, 606762
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
Comment on mode of pathogenicity: Mutation consequence summary from G2P = activating. OMIM reports several missense variants.Created: 8 Jan 2019, 12:13 p.m.
Source: Expert Review Red was removed from gene: GLUD1
Source NHS GMS was added to GLUD1. Source London North GLH was added to GLUD1.
Ellen McDonagh: Comment on mode of pathogenici
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
Added phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 for gene: GLUD1
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