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| Aminoacidopathy v1.67 | SLC1A3 | Zornitza Stark Marked gene: SLC1A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.67 | SLC1A3 | Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.67 | SLC1A3 | Zornitza Stark Classified gene: SLC1A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.67 | SLC1A3 | Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | SLC1A3 |
Sangavi Sivagnanasundram gene: SLC1A3 was added gene: SLC1A3 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A3 were set to 27829685, 16116111, 29062094, 19139306, 29208948, 29066757, 32754645, 25497598 Phenotypes for gene: SLC1A3 were set to episodic ataxia type 6 MONDO:0012982 Mode of pathogenicity for gene: SLC1A3 was set to Other Review for gene: SLC1A3 was set to GREEN Added comment: Variants reported in 8 unrelated probands with reported errors in glutamate metabolism. Mechanism of disease varies depending on the mutation. The most severe variants (p.M128R, p.P290R, and p.T318A) appear to have gain of function mechanism. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 09/10/2020 https://search.clinicalgenome.org/CCID:006154 Sources: ClinGen |
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