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  3. GLS
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Early onset or syndromic epilepsy

Gene: GLS

Amber List (moderate evidence)
GLS (glutaminase)
EnsemblGeneIds (GRCh38): ENSG00000115419
EnsemblGeneIds (GRCh37): ENSG00000115419
OMIM: 138280, Gene2Phenotype
GLS is in 8 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are three unrelated cases reported with biallelic GLS variants and with epilepsy. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 3 Feb 2025, 10:28 p.m. | Last Modified: 3 Feb 2025, 10:28 p.m.
Panel Version: 7.29
Comment on publications: PMID:39559284 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 3 Feb 2025, 10:27 p.m. | Last Modified: 3 Feb 2025, 10:27 p.m.
Panel Version: 7.28
PMID:39559284 reported a case of neonatal encephalopathy characterized by refractory seizures and significant apnea resulting from glutaminase deficiency, along with elevated levels of glutamine and glycine in the cerebrospinal fluid. The patient was identified with a homozygous variant in GLS gene (p.Arg169Ter).
Created: 3 Feb 2025, 10:26 p.m. | Last Modified: 3 Feb 2025, 10:26 p.m.
Panel Version: 7.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 71, OMIM:618328

Publications

Created: 3 Feb 2025, 10:26 p.m.
Last Modified: 3 Feb 2025, 10:26 p.m.
Panel version: 7.27

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Biallelic variants identified in two families with three individuals affected by neonatal lethal epileptic encephalopathy and respiratory insufficiency (PMID: 30575854). The variants were predicted to result in loss of function, supported by elevated glutamine in all cases.

Rating Amber, awaiting further cases/clinical evidence prior to inclusion as diagnostic-grade.
Created: 19 Jan 2021, 10:40 a.m. | Last Modified: 19 Jan 2021, 10:40 a.m.
Panel Version: 2.257
Created: 19 Jan 2021, 10:40 a.m.
Last Modified: 19 Jan 2021, 10:40 a.m.
Panel version: 2.257

Zornitza Stark (Australian Genomics)

I don't know

Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels.
Sources: Expert list
Created: 22 Jan 2020, 10:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 71, MIM# 618328

Publications

Created: 22 Jan 2020, 10:50 a.m.

Panel version: 2.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Developmental and epileptic encephalopathy 71, OMIM:618328
Tags
Q1_25_ promote_green
OMIM
138280
Clinvar variants
Variants in GLS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: gls has been classified as Amber List (Moderate Evidence).

3 Feb 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ promote_green tag was added to gene: GLS.

3 Feb 2025, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: GLS were set to 30575854

11 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GLS were changed from Developmental and epileptic encephalopathy 71, OMIM:618328; Developmental and epileptic encephalopathy, 71, MONDO:0032678 to Developmental and epileptic encephalopathy 71, OMIM:618328

19 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gls has been classified as Amber List (Moderate Evidence).

19 Jan 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM# 618328 to Developmental and epileptic encephalopathy 71, OMIM:618328; Developmental and epileptic encephalopathy, 71, MONDO:0032678

22 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GLS was added gene: GLS was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 30575854 Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328 Review for gene: GLS was set to AMBER