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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PGAP2 |
Ivone Leong Source NHS GMS was added to PGAP2. Source London North GLH was added to PGAP2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAP2 |
Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PGAP2 Publications for gene PGAP2 were changed from 23561846; 23561847 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAP2 |
Ellen McDonagh gene: PGAP2 was added gene: PGAP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP2 were set to 23561846; 23561847 Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) |
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