Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: GLS

Green List (high evidence)

GLS (glutaminase)
EnsemblGeneIds (GRCh38): ENSG00000115419
EnsemblGeneIds (GRCh37): ENSG00000115419
OMIM: 138280, Gene2Phenotype
GLS is in 7 panels

2 reviews

Saikat Santra (Birmingham Children's Hospital)

Green List (high evidence)

This gene is recently confirmed to be a cause for intellectual disability, ataxia, optic atrophy and biochemical evidence of very high glutamine levels without hyperammonaemia. A series of 3 patients is in press (NEJM) and presented at SSIEM 2018. One of the mechanisms of inheritance in some patients is a large tandem repeat which may coexist with a point mutation on the other allele. One patient has been found to be homozygous for the tandem repeat. Patients may be investigated for elevated glutamine with this panel and analysis of GLS should certainly now be included.
Created: 21 Dec 2018, 3:56 p.m.

Phenotypes
Intellectual disability; Ataxia; Optic Atrophy

Publications

Mode of pathogenicity
Other

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on phenotypes: This gene now appears in OMIM with a disease due to new publications.
Created: 4 Dec 2019, 4:16 p.m. | Last Modified: 4 Dec 2019, 4:16 p.m.
Panel Version: 1.414
Comment on list classification: Due to expert review, evidence of 2 unrelated families for loss-of-function variants and further evidence for the role of this gene with an STR reported, this gene has been promoted from Red to Green.
Created: 4 Dec 2019, 4:15 p.m. | Last Modified: 4 Dec 2019, 4:15 p.m.
Panel Version: 1.413
Comment on publications: PMID: 30575854 - 2 families reported with 4 infants who had homozyous/compound heterozygous loss-of-function variants in this gene resulting in early neonatal epileptic encephalopathy with glutaminase deficiency and a lethal outcome.
Created: 4 Dec 2019, 4:10 p.m. | Last Modified: 4 Dec 2019, 4:10 p.m.
Panel Version: 1.411
Comment on publications: PMID: 30970188 - short tandem repeat (STR) reported in this gene to cause an inborn error of metabolism.
Created: 4 Dec 2019, 4:09 p.m. | Last Modified: 4 Dec 2019, 4:09 p.m.
Panel Version: 1.410
Cannot find association for variants in this gene and monogenic disease. Not found in Orphanet, Gene2Phenotype or OMIM associated with a disease.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
Unknown

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Glucosidase 1 deficiency (Disorders of protein N-glycosylation)
  • Epileptic encephalopathy, early infantile, 71 618328
  • Global developmental delay, progressive ataxia, and elevated glutamine 618412
OMIM
138280
Clinvar variants
Variants in GLS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: GLS were changed from Glucosidase 1 deficiency (Disorders of protein N-glycosylation) to Glucosidase 1 deficiency (Disorders of protein N-glycosylation); Epileptic encephalopathy, early infantile, 71 618328; Global developmental delay, progressive ataxia, and elevated glutamine 618412

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Dec 2019, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: GLS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: GLS were set to 27604308; 30575854; 29468182

4 Dec 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: GLS were set to 27604308; 30575854; 29468182

4 Dec 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: GLS were set to 27604308; 30575854; 29468182

4 Dec 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: GLS were set to 27604308

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GLS. Source London North GLH was added to GLS.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Glucosidase 1 deficiency (Disorders of protein N-glycosylation) for gene: GLS

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GLS was added gene: GLS was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GLS was set to Unknown Publications for gene: GLS were set to 27604308 Phenotypes for gene: GLS were set to Glucosidase 1 deficiency (Disorders of protein N-glycosylation)