Likely inborn error of metabolism - targeted testing not possible
Gene: SLC35A1Comment on list classification: Updated rating from Amber to Green following promotion of SLC35A1 to Green on the component panel 'Congenital disorders of glycosylation'.Created: 18 Feb 2019, 3:45 p.m.
Associated with phenotype in OMIM and as a probable G2P. At least 3 variants reported in 2 patients. Variant rs10638303 is common, resulting in 5 different transcript variants: wildtype gene (47%), partial skipping of exon 6 (29%), full skipping of exon 6 (14%), full skipping of exons 5 and 6 (9%), and partial skipping of exon 6 plus full skipping of exon 3 (1%). The authors referred to this polymorphism as 'leaky,' allowing for the expression of enough wildtype transcripts even in homozygous individuals to avoid the disease (from PMID 15576474)Created: 23 Feb 2017, 5:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iif, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Publications
Gene: slc35a1 has been classified as Green List (High Evidence).
Publications for gene: SLC35A1 were set to 27604308
Source NHS GMS was added to SLC35A1. Source London North GLH was added to SLC35A1.
Sarah Leigh: Associated with relevant pheno
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
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)