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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PIGL |
Ivone Leong Source NHS GMS was added to PIGL. Source London North GLH was added to PIGL. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGL |
Ellen McDonagh Added phenotypes PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000 for gene: PIGL Publications for gene PIGL were changed from 27604308 to 22444671 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGL |
Ellen McDonagh gene: PIGL was added gene: PIGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 27604308 Phenotypes for gene: PIGL were set to PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000 |
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