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Likely inborn error of metabolism 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 v1.47 SLC17A5 Ivone Leong Source NHS GMS was added to SLC17A5.
Source London North GLH was added to SLC17A5.
Likely inborn error of metabolism 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 v1.31 SLC17A5 Louise Daugherty Phenotypes for gene: SLC17A5 were changed from to Salla disease, 604369
Likely inborn error of metabolism 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