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| Bilateral congenital or childhood onset cataracts v2.89 | GLS | Arina Puzriakova Phenotypes for gene: GLS were changed from ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685 to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.57 | GLS | Arina Puzriakova Phenotypes for gene: GLS were changed from ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339 to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.32 | GLS | Ivone Leong edited their review of gene: GLS: Added comment: 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.; Changed rating: AMBER; Changed publications: 30239721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.31 | GLS | Ivone Leong reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.30 | GLS |
Ivone Leong 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 |
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