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  2. Hyperammonaemia
  3. GLUD1
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Hyperammonaemia

Gene: GLUD1

Green List (high evidence)
GLUD1 (glutamate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000148672
EnsemblGeneIds (GRCh37): ENSG00000148672
OMIM: 138130, Gene2Phenotype
GLUD1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 2 Jan 2021, 7:10 a.m. | Last Modified: 2 Jan 2021, 7:10 a.m.
Panel Version: 0.5893

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperinsulinism-hyperammonemia syndrome, MIM# 606762

Publications

Created: 2 Jan 2021, 7:10 a.m.
Last Modified: 2 Jan 2021, 7:10 a.m.
Panel version: Imported from Mendeliome panel version 0.5893

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
OMIM
138130
Clinvar variants
Variants in GLUD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLUD1 was added gene: GLUD1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,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 11214910; 10636977 Phenotypes for gene: GLUD1 were set to Hyperinsulinism-hyperammonemia syndrome, 606762