| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.56 | GSS | Zornitza Stark Marked gene: GSS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.56 | GSS | Zornitza Stark Gene: gss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.56 | GSS | Zornitza Stark Classified gene: GSS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.56 | GSS | Zornitza Stark Gene: gss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GSS |
Sangavi Sivagnanasundram gene: GSS was added gene: GSS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSS were set to 17397529 Phenotypes for gene: GSS were set to inherited glutathione synthetase deficiency MONDO:0017909 Review for gene: GSS was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 26/04/2019 -https://search.clinicalgenome.org/CCID:005016 Well established gene-disease association with reported individuals having errors in glutathione metabolism. Sources: ClinGen |
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