Congenital disorders of glycosylation
Gene: COG6

COG6 (component of oligomeric golgi complex 6)
EnsemblGeneIds (GRCh38): ENSG00000133103
EnsemblGeneIds (GRCh37): ENSG00000133103
OMIM: 606977, Gene2Phenotype
COG6 is in 7 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9Y2V7-1
Created: 9 Jan 2020, 11:37 a.m. | Last Modified: 9 Jan 2020, 11:37 a.m.

Panel Version: 2.0

Created: 9 Jan 2020, 11:37 a.m.
Last Modified: 9 Jan 2020, 11:37 a.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 5 variants reported in 6 cases
Created: 15 Dec 2016, 3:31 p.m.

Created: 15 Dec 2016, 3:31 p.m.

Panel version: 0.48

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 1:34 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 IIl 614576
Shaheen syndrome 615328
Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)

OMIM

606977

Clinvar variants

Variants in COG6

Penetrance

Complete

Publications

Panels with this gene