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Likely inborn error of metabolism - targeted testing not possible v1.47 | COG7 |
Ivone Leong Source NHS GMS was added to COG7. Source London North GLH was added to COG7. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG7 |
Ellen McDonagh Added phenotypes Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779 for gene: COG7 Publications for gene COG7 were changed from 15107842; 11980916 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG7 |
Ellen McDonagh gene: COG7 was added gene: COG7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG7 were set to 15107842; 11980916 Phenotypes for gene: COG7 were set to Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779 |