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Intellectual disability syndromic and non-syndromic

Gene: GLUD1

Red List (low 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)

Red List (low evidence)

ID is not typically a feature.
Created: 4 Dec 2019, 10:27 a.m. | Last Modified: 4 Dec 2019, 10:27 a.m.
Panel Version: 0.287

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinism-hyperammonemia syndrome, MIM#606762

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, MIM#606762
OMIM
138130
Clinvar variants
Variants in GLUD1
Penetrance
None
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glud1 has been classified as Red List (Low Evidence).

4 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM#606762

4 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GLUD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glud1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLUD1 was added gene: GLUD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLUD1 was set to Unknown