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Likely inborn error of metabolism - targeted testing not possible v1.47 | COG1 |
Ivone Leong Source NHS GMS was added to COG1. Source London North GLH was added to COG1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG1 |
Ellen McDonagh Added phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209 for gene: COG1 Publications for gene COG1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG1 |
Ellen McDonagh gene: COG1 was added gene: COG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG1 were set to Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209 |