Aminoacidopathy
Gene: GLULEnsemblGeneIds (GRCh38): ENSG00000135821
EnsemblGeneIds (GRCh37): ENSG00000135821
OMIM: 138290, Gene2Phenotype
GLUL is in 9 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Moderate by ClinGen Aminoacidopathy GCEP on 12/12/2022 - https://search.clinicalgenome.org/CCID:004969
At least 5 probands from 4 unrelated families reported with glutamine deficiency.
Sources: ClinGenCreated: 6 Jun 2024, 5:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393
- OMIM
- 138290
- Clinvar variants
- Variants in GLUL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: glul has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: glul has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: GLUL was added gene: GLUL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 25870278; 20140959; 30053506 Phenotypes for gene: GLUL were set to congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393 Review for gene: GLUL was set to GREEN