Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | COG6 |
Ivone Leong Source NHS GMS was added to COG6. Source London North GLH was added to COG6. |
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| Likely inborn error of metabolism v0.4 | COG6 |
Ellen McDonagh Added phenotypes Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576 for gene: COG6 Publications for gene COG6 were changed from 27604308 to 26260076; 11980916 |
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| Likely inborn error of metabolism v0.4 | COG6 |
Ellen McDonagh gene: COG6 was added gene: COG6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG6 were set to 27604308 Phenotypes for gene: COG6 were set to Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576 |
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