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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PIGO |
Ivone Leong Source NHS GMS was added to PIGO. Source London North GLH was added to PIGO. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGO |
Ellen McDonagh Added phenotypes (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749 for gene: PIGO Publications for gene PIGO were changed from 22683086; 27177984; 24129430 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGO |
Ellen McDonagh gene: PIGO was added gene: PIGO was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGO were set to 22683086; 27177984; 24129430 Phenotypes for gene: PIGO were set to (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749 |
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