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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG8 |
Ivone Leong Source NHS GMS was added to ALG8. Source London North GLH was added to ALG8. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG8 |
Ellen McDonagh Added phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104 for gene: ALG8 Publications for gene ALG8 were changed from 12480927; 15235028 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG8 |
Ellen McDonagh gene: ALG8 was added gene: ALG8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG8 were set to 12480927; 15235028 Phenotypes for gene: ALG8 were set to Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104 |
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