Congenital disorders of glycosylation
Gene: SLC35A1GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P78382-1Created: 9 Jan 2020, 2:51 p.m. | Last Modified: 9 Jan 2020, 2:51 p.m.
Panel Version: 2.0
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.Created: 18 Feb 2019, 3:21 p.m.
A summary of evidence: A Turkish patient and a German patient with ID and seizures and homozygous/compound het SLC35A1 variants were reported in PMID:23873973 (Mohamed et al, 2013) and PMID:28856833 (Ng et al, 2017), respectively. Martinez-Duncker, 2005 (PMID:15576474) identified a patient with a haematological phenotype and SLC35A1 compound heterozygosity- one pathogenic variant and one common polymorphism. A 2018 paper (PMID:30115659) now reports 2 siblings with a haematological phenotype and homozygous missense variant in SLC35A1. The authors say that the siblings' phenotypes included delayed psychomotor development, epilepsy, ataxia, microcephaly, choreiform movements, and macrothrombocytopenia.Created: 18 Feb 2019, 3:19 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 3 variants reported in 2 cases.Created: 19 Dec 2016, noon
Gene: slc35a1 has been classified as Green List (High Evidence).
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)
Publications for gene: SLC35A1 were set to 15576474; 23873973
Promoted to V1 19th December 2016
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for SLC35A1 were set to 15576474; 23873973
SLC35A1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
SLC35A1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
SLC35A1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
SLC35A1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
SLC35A1 was created by sleigh