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  2. Congenital disorders of glycosylation
  3. COG2
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Congenital disorders of glycosylation

Gene: COG2

Red List (low evidence)
COG2 (component of oligomeric golgi complex 2)
EnsemblGeneIds (GRCh38): ENSG00000135775
EnsemblGeneIds (GRCh37): ENSG00000135775
OMIM: 606974, Gene2Phenotype
COG2 is in 2 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on phenotypes: New gene:disease association added in OMIM in April 2017 (MIM:617395): 1 patient reported in OMIM.
Created: 2 May 2017, 3:21 p.m.
Created: 2 May 2017, 3:21 p.m.

Panel version: 1.8

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or G2P. One variants reported by expert reviewer
Created: 19 Dec 2016, 3:47 p.m.
Created: 19 Dec 2016, 3:47 p.m.

Panel version: 0.160

Daniel Ungar (University of York, Department of Biology)

Red List (low evidence)

Only one patient has been reported so far. COG2 is one subunit of the octameric COG complex. Six of the COG subunits are on the green list, and biochemical evidence, and data from model organisms suggest that COG2 is a good candidate to find more patients.
Created: 12 Dec 2016, 1:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 1:45 p.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Congenital disorder of glycosylation, type IIq, 617395
OMIM
606974
Clinvar variants
Variants in COG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 May 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for COG2 were set to ?Congenital disorder of glycosylation, type IIq, 617395

19 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Dec 2016, Gel status: 0

Added New Source

Daniel Ungar (University of York, Department of Biology)

COG2 was added to Congenital disorders of glycosylationpanel. Sources: Literature

12 Dec 2016, Gel status: 0

Created

Daniel Ungar (University of York, Department of Biology)

COG2 was created by ungardani