Congenital disorders of glycosylation
Gene: COG4GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9H9E3-1Created: 9 Jan 2020, 11:35 a.m. | Last Modified: 9 Jan 2020, 11:35 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 4 variants reported as compound heterozygotes, together with supporting in vitro evidence.Created: 15 Dec 2016, 2:38 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).
Publications for COG4 were set to 11980916; 19494034; 19651599; 21185756
COG4 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
COG4 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene COG4 was set to BIALLELIC, autosomal or pseudoautosomal
COG4 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
COG4 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
COG4 was created by sleigh