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  3. COG5
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Congenital disorders of glycosylation

Gene: COG5

Green List (high evidence)
COG5 (component of oligomeric golgi complex 5)
EnsemblGeneIds (GRCh38): ENSG00000164597
EnsemblGeneIds (GRCh37): ENSG00000164597
OMIM: 606821, Gene2Phenotype
COG5 is in 11 panels

4 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9UP83-1
Created: 9 Jan 2020, 11:36 a.m. | Last Modified: 9 Jan 2020, 11:36 a.m.
Panel Version: 2.0
Created: 9 Jan 2020, 11:36 a.m.
Last Modified: 9 Jan 2020, 11:36 a.m.
Panel version: 2.0

Eleanor Williams (Genomics England Curator)

Added two additional publications PMID:23430875;28960046
Created: 6 Mar 2018, 10:09 a.m.
Created: 6 Mar 2018, 10:09 a.m.

Panel version: 1.14

Sarah Leigh (Genomics England Curator)

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.
Created: 15 Dec 2016, 2:46 p.m.

Panel version: 0.47

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 1:33 p.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type IIi 613612
  • Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
non-coding-known-pathogenic
OMIM
606821
Clinvar variants
Variants in COG5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Mar 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for COG5 were set to 11980916; 19690088; 23228021; 23430875; 28960046

6 Mar 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for COG5 were set to 11980916; 19690088; 23228021; 19690088

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for COG5 were set to 11980916; 19690088; 23228021

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

COG5 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

COG5 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene COG5 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

COG5 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COG5 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COG5 was created by sleigh