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| Aminoacidopathy v1.111 | SLC38A8 | Zornitza Stark Marked gene: SLC38A8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.111 | SLC38A8 | Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.111 | SLC38A8 | Zornitza Stark Classified gene: SLC38A8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.111 | SLC38A8 | Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | SLC38A8 |
Sangavi Sivagnanasundram gene: SLC38A8 was added gene: SLC38A8 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A8 were set to 32744312; 24290379; 24045842; 25451601; 24290379 Phenotypes for gene: SLC38A8 were set to foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 Review for gene: SLC38A8 was set to GREEN Added comment: Reported in >5 unrelated probands with reported errors in glutamate/glutamine transport. Classified Definitive by Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:006184 Sources: ClinGen |
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