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  3. GLS
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Miscellaneous Metabolic Disorders

Gene: GLS

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

In addition, single individual also reported with de novo, GoF variant with profound ID, cataract.
Created: 8 Jul 2020, 6:43 a.m. | Last Modified: 8 Jul 2020, 6:43 a.m.
Panel Version: 0.3278
Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels (PMID: 30575854).

Another three unrelated individuals described with compound het variants, one of which is a triplet expansion in the 5' UTR (PMID: 30970188).
Sources: Expert list
Created: 2 Jan 2020, 11:35 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 71, MIM# 618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412; Catarct

Publications

Created: 2 Jan 2020, 11:35 p.m.

Panel version: Imported from Mendeliome panel version 0.3278

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 71 MIM#618328
  • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
  • disorder of amino acid metabolism
OMIM
138280
Clinvar variants
Variants in GLS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GLS 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: gls 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: gls has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GLS were set to

4 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GLS was added gene: GLS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLS were set to Developmental and epileptic encephalopathy 71 MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412; disorder of amino acid metabolism