Congenital disorders of glycosylation
Gene: COG5GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9UP83-1Created: 9 Jan 2020, 11:36 a.m. | Last Modified: 9 Jan 2020, 11:36 a.m.
Panel Version: 2.0
Added two additional publications PMID:23430875;28960046Created: 6 Mar 2018, 10:09 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 7 variants reported in 5 cases.Created: 15 Dec 2016, 2:54 p.m.
Comment on tag: Variant c.1669-15T>C shown to result in exon skipping and severely reduced expression of the COG5 protein (PMID: 19690088).Created: 15 Dec 2016, 2:46 p.m.
Publications for COG5 were set to 11980916; 19690088; 23228021; 23430875; 28960046
Publications for COG5 were set to 11980916; 19690088; 23228021; 19690088
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for COG5 were set to 11980916; 19690088; 23228021
COG5 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
COG5 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene COG5 was set to BIALLELIC, autosomal or pseudoautosomal
COG5 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
COG5 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
COG5 was created by sleigh