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Likely inborn error of metabolism - targeted testing not possible v4.129 | SLC6A19 | Tracy Lester reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC6A19 |
Ivone Leong Source NHS GMS was added to SLC6A19. Source London North GLH was added to SLC6A19. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A19 |
Ellen McDonagh gene: SLC6A19 was added gene: SLC6A19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424 Phenotypes for gene: SLC6A19 were set to Iminoglycinuria, digenic; Hartnup disorder AD |