| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.127 | SLC25A22 | Zornitza Stark Marked gene: SLC25A22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.127 | SLC25A22 | Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.127 | SLC25A22 | Zornitza Stark Classified gene: SLC25A22 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.127 | SLC25A22 | Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.113 | SLC25A22 |
Sangavi Sivagnanasundram gene: SLC25A22 was added gene: SLC25A22 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A22 were set to 15592994; 19780765; 24596948 Phenotypes for gene: SLC25A22 were set to Developmental and epileptic encephalopathy MONDO:0100062 Review for gene: SLC25A22 was set to GREEN Added comment: Established gene-disease association with reported individuals having impaired mitochondrial glutamate transport. Three unrelated families reported with three different rare missense variants. Sources: Other |
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