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Likely inborn error of metabolism - targeted testing not possible v1.47 | MPDU1 |
Ivone Leong Source NHS GMS was added to MPDU1. Source London North GLH was added to MPDU1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPDU1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: MPDU1 Publications for gene MPDU1 were changed from 11733556 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPDU1 |
Ellen McDonagh gene: MPDU1 was added gene: MPDU1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733556 Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |