Cataracts

Gene: GLS

Amber List (moderate evidence)

GLS (glutaminase)
EnsemblGeneIds (GRCh38): ENSG00000115419
EnsemblGeneIds (GRCh37): ENSG00000115419
OMIM: 138280, Gene2Phenotype
GLS is in 5 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

GLS is associated with a phenotype on OMIM but not on Gene2Phenotype. There is only one published case (PMID: 30239721) who had infantile cataracts who had a heterozygote variant in this gene. The same paper also created a zebrafish model of this variant and it caused cataracts in the fish. However, until more evidence is available this gene will be rated amber.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: GLS; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]
Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339
OMIM
138280
Clinvar variants
Variants in GLS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Aug 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: GLS was added gene: GLS was added to Cataracts. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: GLS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GLS were set to 30239721 Phenotypes for gene: GLS were set to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339