Congenital disorders of glycosylation
Gene: SLC35C1GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q96A29-1Created: 9 Jan 2020, 2:56 p.m. | Last Modified: 9 Jan 2020, 2:56 p.m.
Panel Version: 2.0
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.
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for SLC35C1 were set to 11326280; 12476046
SLC35C1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
SLC35C1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
SLC35C1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
SLC35C1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
SLC35C1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
SLC35C1 was created by sleigh