Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | COG8 |
Ivone Leong Source NHS GMS was added to COG8. Source London North GLH was added to COG8. |
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| Likely inborn error of metabolism v0.4 | COG8 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG8 Publications for gene COG8 were changed from 27604308 to 17220172; 17331980; 11980916 |
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| Likely inborn error of metabolism v0.4 | COG8 |
Ellen McDonagh gene: COG8 was added gene: COG8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG8 were set to 27604308 Phenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) |
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