Miscellaneous Metabolic Disorders

Gene: GLUL

Green List (high evidence)

GLUL (glutamate-ammonia ligase)
EnsemblGeneIds (GRCh38): ENSG00000135821
EnsemblGeneIds (GRCh37): ENSG00000135821
OMIM: 138290, Gene2Phenotype
GLUL is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 5 cases in 4 families have been reported with glutamine deficiency.
Sources: NHS GMS
Created: 4 Feb 2021, 10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glutamine deficiency, congenital MIM#610015
  • Developmental and epileptic encephalopathy 116, MIM# 620806
OMIM
138290
Clinvar variants
Variants in GLUL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806

2 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GLUL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: glul has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: glul has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GLUL was added gene: GLUL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 16267323; 21353613; 33150193 Phenotypes for gene: GLUL were set to Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism Review for gene: GLUL was set to GREEN gene: GLUL was marked as current diagnostic