Miscellaneous Metabolic Disorders
Gene: GLULEnsemblGeneIds (GRCh38): ENSG00000135821
EnsemblGeneIds (GRCh37): ENSG00000135821
OMIM: 138290, Gene2Phenotype
GLUL is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
At least 5 cases in 4 families have been reported with glutamine deficiency.
Sources: NHS GMSCreated: 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
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
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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: glul has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: glul has been classified as Green List (High Evidence).
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