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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG6 |
Ivone Leong Source NHS GMS was added to ALG6. Source London North GLH was added to ALG6. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG6 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) for gene: ALG6 Publications for gene ALG6 were changed from 10914684 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG6 |
Ellen McDonagh gene: ALG6 was added gene: ALG6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG6 were set to 10914684 Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) |