Congenital disorders of glycosylation
Gene: SLC35A1

SLC35A1 (solute carrier family 35 member A1)
EnsemblGeneIds (GRCh38): ENSG00000164414
EnsemblGeneIds (GRCh37): ENSG00000164414
OMIM: 605634, Gene2Phenotype
SLC35A1 is in 9 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P78382-1
Created: 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.

Created: 18 Feb 2019, 3:19 p.m.

Panel version: 2.0

Sarah Leigh (Genomics England Curator)

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

Created: 19 Dec 2016, noon

Panel version: 0.105

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 13 Dec 2016, 10:12 a.m.

Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Congenital disorder of glycosylation, type IIf, 603585
CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

OMIM

605634

Clinvar variants

Variants in SLC35A1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: slc35a1 has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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)

18 Feb 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC35A1 were set to 15576474; 23873973

19 Dec 2016, Gel status: 2