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Likely inborn error of metabolism - targeted testing not possible v1.47 | PIGV |
Ivone Leong Source NHS GMS was added to PIGV. Source London North GLH was added to PIGV. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGV |
Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PIGV Publications for gene PIGV were changed from 27604308 to 20802478; 24129430 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGV |
Ellen McDonagh gene: PIGV was added gene: PIGV was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGV were set to 27604308 Phenotypes for gene: PIGV were set to Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) |