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| Likely inborn error of metabolism - targeted testing not possible v1.47 | COG5 |
Ivone Leong Source NHS GMS was added to COG5. Source London North GLH was added to COG5. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | COG5 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG5 Publications for gene COG5 were changed from 23228021; 23430875; 28960046; 19690088; 11980916 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | COG5 |
Ellen McDonagh gene: COG5 was added gene: COG5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG5 were set to 23228021; 23430875; 28960046; 19690088; 11980916 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) |
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