Activity
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7 actions
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| Likely inborn error of metabolism v1.49 | SLC35A1 | Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.49 | SLC35A1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following promotion of SLC35A1 to Green on the component panel 'Congenital disorders of glycosylation'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.49 | SLC35A1 | Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.48 | SLC35A1 | Rebecca Foulger Publications for gene: SLC35A1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | SLC35A1 |
Ivone Leong Source NHS GMS was added to SLC35A1. Source London North GLH was added to SLC35A1. |
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| Likely inborn error of metabolism v0.4 | SLC35A1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iif, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35A1 Publications for gene SLC35A1 were changed from 23873973; 15576474 to 27604308 |
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| Likely inborn error of metabolism v0.4 | SLC35A1 |
Ellen McDonagh gene: SLC35A1 was added gene: SLC35A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A1 were set to 23873973; 15576474 Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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