Mitochondrial disorders
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: 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.
Gene: glud1 has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for GLUD1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for GLUD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for GLUD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
GLUD1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen