Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review of 2018 paper (30115659) and clinical agreement from Helen Brittain. Although rating on DD-G2P remains as 'Probable' and the phenotypic spectrum is not consistent, there are sufficient (>3) cases with homozygous or compound het SLC35A1 variants to support causation of glycosylation disorder.
Rebecca Foulger Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type IIf, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)