Possible mitochondrial disorder - nuclear genes
Gene: GLUD1
GLUD1 (glutamate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000148672
EnsemblGeneIds (GRCh37): ENSG00000148672
OMIM: 138130, Gene2Phenotype
GLUD1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000148672
EnsemblGeneIds (GRCh37): ENSG00000148672
OMIM: 138130, Gene2Phenotype
GLUD1 is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
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
Phenotypes
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)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Hyperinsulinism-hyperammonemia syndrome, 606762
- OMIM
- 138130
- Clinvar variants
- Variants in GLUD1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Hyperammonaemia
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Congenital hyperinsulinism
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