| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.118 | GSR | Zornitza Stark Marked gene: GSR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.118 | GSR | Zornitza Stark Gene: gsr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.118 | GSR | Zornitza Stark Classified gene: GSR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.118 | GSR | Zornitza Stark Gene: gsr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.113 | GSR |
Sangavi Sivagnanasundram 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 Added comment: 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: Other |
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