Undiagnosed metabolic disordersGene: SLC35A1
Comment on list classification: Updated rating from Red to Green 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.
Created: 18 Feb 2019, 3:37 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
Congenital disorder of glycosylation, type Iif, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Gene: slc35a1 has been classified as Green List (High Evidence).
Publications for gene: SLC35A1 were set to 27604308
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
SLC35A1 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
SLC35A1 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
SLC35A1 was created by sleigh