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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG12 |
Ivone Leong Source NHS GMS was added to ALG12. Source London North GLH was added to ALG12. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG12 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) for gene: ALG12 Publications for gene ALG12 were changed from 27604308 to 27604308; 17506107; 11983712 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG12 |
Ellen McDonagh gene: ALG12 was added gene: ALG12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG12 were set to 27604308 Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) |