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| Aminoacidopathy v1.109 | SLC6A19 | Zornitza Stark Marked gene: SLC6A19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.109 | SLC6A19 | Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.109 | SLC6A19 | Zornitza Stark Classified gene: SLC6A19 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.109 | SLC6A19 | Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | SLC6A19 |
Sangavi Sivagnanasundram gene: SLC6A19 was added gene: SLC6A19 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A19 were set to 15286787; 15286788; 18484095 Phenotypes for gene: SLC6A19 were set to Hartnup disease MONDO:0009324 Review for gene: SLC6A19 was set to GREEN Added comment: Established gene-disease association with >10 probands reported with clinical symptoms assocation with Hartnup disease. Mechanism of disease is LoF with affected individuals having a defect in amino acid transportation. Classified Definitive by Aminoacidopathy GCEP on 07/05/2020 - https://search.clinicalgenome.org/CCID:006196 Sources: ClinGen |
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