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Undiagnosed metabolic disorders v1.92 | SLC35A1 | Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Undiagnosed metabolic disorders v1.92 | SLC35A1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green as agreed with Helen Brittain following review of 2018 paper (PMID:30115659) and promotion to Green on the 'Congenital disorders of glycosylation' panel. In addition to the 'leaky' polymorphism reported in PMID:15576474, there are 3 cases (PMIDs 23873973, 28856833, 30115659) to support causation of glycosylation disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Undiagnosed metabolic disorders v1.92 | SLC35A1 | Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Undiagnosed metabolic disorders v1.91 | SLC35A1 | Rebecca Foulger Publications for gene: SLC35A1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Undiagnosed metabolic disorders | SLC35A1 | Arianna Tucci reviewed SLC35A1 |