Congenital disorders of glycosylation
Gene: COG1GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q8WTW3-1Created: 9 Jan 2020, 11:20 a.m. | Last Modified: 9 Jan 2020, 11:20 a.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 2 variants reported, plus supportive in vitro and segregation reported.Created: 15 Dec 2016, 2:24 p.m.
Type II N-glycosylation defect with incompletely processed glycan chains, also contains O-glycosylation defects.
Based on model organism studies expected to contain defects in glycolipid biosynthesis as well, although this has not been shown in patients.Created: 8 Dec 2016, 5:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
COG1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
COG1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
COG1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene COG1 was set to BIALLELIC, autosomal or pseudoautosomal
COG1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
COG1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
COG1 was created by sleigh