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| Aminoacidopathy v1.106 | SLC7A7 | Zornitza Stark Marked gene: SLC7A7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.106 | SLC7A7 | Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.106 | SLC7A7 | Zornitza Stark Classified gene: SLC7A7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.106 | SLC7A7 | Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | SLC7A7 |
Sangavi Sivagnanasundram gene: SLC7A7 was added gene: SLC7A7 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 10080182; 10080183; 15776247 Phenotypes for gene: SLC7A7 were set to lysinuric protein intolerance MONDO:0009109 Review for gene: SLC7A7 was set to GREEN Added comment: Reported in at least 8 probands all having an error in amino acid transport. LoF is the mechanism of disease. Classified Definitive by Aminoacidopathy GCEP on 08/11/2019 - https://search.clinicalgenome.org/CCID:006201 Sources: ClinGen |
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