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| Aminoacidopathy v1.68 | SLC1A2 | Zornitza Stark Marked gene: SLC1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.68 | SLC1A2 | Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.68 | SLC1A2 | Zornitza Stark Classified gene: SLC1A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.68 | SLC1A2 | Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | SLC1A2 |
Sangavi Sivagnanasundram gene: SLC1A2 was added gene: SLC1A2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A2 were set to 23934111; 27476654; 28777935; 30937933 Phenotypes for gene: SLC1A2 were set to developmental and epileptic encephalopathy, 41 MONDO:0014916 Review for gene: SLC1A2 was set to GREEN Added comment: Reported variants in 6 unrelated probands. The mechanism of disease is heterozygous dominant negative. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2020 https://search.clinicalgenome.org/CCID:006153 Sources: ClinGen |
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