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| Likely inborn error of metabolism - targeted testing not possible v1.47 | DPAGT1 |
Ivone Leong Source NHS GMS was added to DPAGT1. Source London North GLH was added to DPAGT1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DPAGT1 |
Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093 for gene: DPAGT1 Publications for gene DPAGT1 were changed from 12872255; 22304930 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DPAGT1 |
Ellen McDonagh gene: DPAGT1 was added gene: DPAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 12872255; 22304930 Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093 |
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