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Likely inborn error of metabolism - targeted testing not possible v1.47 | C1GALT1C1 |
Ivone Leong Source NHS GMS was added to C1GALT1C1. Source London North GLH was added to C1GALT1C1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C1GALT1C1 |
Ellen McDonagh Mode of inheritance for gene C1GALT1C1 was changed from Other - please specifiy in evaluation comments to Other - please specify in evaluation comments Added phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tn polyagglutination syndrome, somatic 300622 for gene: C1GALT1C1 Publications for gene C1GALT1C1 were changed from 27604308 to 27604308; 19778426; 27536663 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C1GALT1C1 |
Ellen McDonagh gene: C1GALT1C1 was added gene: C1GALT1C1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: C1GALT1C1 was set to Other - please specifiy in evaluation comments Publications for gene: C1GALT1C1 were set to 27604308 Phenotypes for gene: C1GALT1C1 were set to Tn polyagglutination syndrome, somatic |