Cataract
Gene: GLSEnsemblGeneIds (GRCh38): ENSG00000115419
EnsemblGeneIds (GRCh37): ENSG00000115419
OMIM: 138280, Gene2Phenotype
GLS is in 7 panels
2 reviews
Chern Lim (Victorian Clinical Genetics Services)
PMID: 30239721:
A de novo Ser482Cys gain-of-function variant in GLS, associated with profound developmental delay and infantile cataract.
Functional analysis demonstrated that this variant causes hyperactivity and compensatory downregulation of GLS expression combined with upregulation of the counteracting enzyme GS, supporting pathogenicity.Created: 28 Jun 2022, 2:19 a.m. | Last Modified: 28 Jun 2022, 2:19 a.m.
Panel Version: 0.344
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Infantile cataract
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family and a zebrafish model.
Sources: Expert listCreated: 8 Jul 2020, 6:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
- OMIM
- 138280
- Clinvar variants
- Variants in GLS
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GLS were changed from Infantile cataracts to Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: GLS was changed from None to Other
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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gls has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gls has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GLS was added gene: GLS was added to Cataract. Sources: Expert list Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 30239721 Phenotypes for gene: GLS were set to Infantile cataracts Review for gene: GLS was set to AMBER