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| Aminoacidopathy v1.69 | SLC1A1 | Zornitza Stark Marked gene: SLC1A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.69 | SLC1A1 | Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.69 | SLC1A1 | Zornitza Stark Classified gene: SLC1A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.69 | SLC1A1 | Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | SLC1A1 |
Sangavi Sivagnanasundram gene: SLC1A1 was added gene: SLC1A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A1 were set to 21123949 Phenotypes for gene: SLC1A1 were set to dicarboxylic aminoaciduria MONDO:0009110 Review for gene: SLC1A1 was set to AMBER Added comment: Reported in 2 unrelated probands along with a mouse knockout model recapitulating human phenotype. Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 https://search.clinicalgenome.org/CCID:006152 Sources: ClinGen |
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