Congenital disorders of glycosylation
Gene: SLC35C1

SLC35C1 (solute carrier family 35 member C1)
EnsemblGeneIds (GRCh38): ENSG00000181830
EnsemblGeneIds (GRCh37): ENSG00000181830
OMIM: 605881, Gene2Phenotype
SLC35C1 is in 10 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q96A29-1
Created: 9 Jan 2020, 2:56 p.m. | Last Modified: 9 Jan 2020, 2:56 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:56 p.m.
Last Modified: 9 Jan 2020, 2:56 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants reported 4 unrelated cases.
Created: 19 Dec 2016, 12:03 p.m.

Created: 19 Dec 2016, 12:03 p.m.

Panel version: 0.106

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 10:39 a.m.

Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Congenital disorder of glycosylation, type IIc 266265
GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

OMIM

605881

Clinvar variants

Variants in SLC35C1

Penetrance

Complete

Publications

Panels with this gene