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| Likely inborn error of metabolism - targeted testing not possible v2.142 | SLC17A5 | Arina Puzriakova Phenotypes for gene: SLC17A5 were changed from Salla disease, 604369; Sialic acid storage disorder, infantile, 269920 to Salla disease, OMIM:604369; Sialic acid storage disorder, infantile, OMIM:269920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC17A5 |
Ivone Leong Source NHS GMS was added to SLC17A5. Source London North GLH was added to SLC17A5. |
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| Likely inborn error of metabolism - targeted testing not possible v1.32 | SLC17A5 | Louise Daugherty Phenotypes for gene: SLC17A5 were changed from Salla disease, 604369 to Salla disease, 604369; Sialic acid storage disorder, infantile, 269920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.31 | SLC17A5 | Louise Daugherty Phenotypes for gene: SLC17A5 were changed from to Salla disease, 604369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC17A5 |
Ellen McDonagh gene: SLC17A5 was added gene: SLC17A5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal |
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