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
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