Aminoacidopathy
Gene: GSREnsemblGeneIds (GRCh38): ENSG00000104687
EnsemblGeneIds (GRCh37): ENSG00000104687
OMIM: 138300, Gene2Phenotype
GSR is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Not an established gene-disease association however there have been reports of two families reported with GR deficiency and there has been a report of functional evidence as well. More concrete evidence of biochemical abnormalities is required to promote the gene to green.
Sources: OtherCreated: 18 Jul 2024, 7:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531; Disorders of glutathione metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531
- Disorders of glutathione metabolism
- OMIM
- 138300
- Clinvar variants
- Variants in GSR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gsr has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gsr has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: GSR was added gene: GSR was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSR were set to 17185460; 31122244 Phenotypes for gene: GSR were set to Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531; Disorders of glutathione metabolism Review for gene: GSR was set to AMBER