Congenital disorders of glycosylation
Gene: COG8

COG8 (component of oligomeric golgi complex 8)
EnsemblGeneIds (GRCh38): ENSG00000213380
EnsemblGeneIds (GRCh37): ENSG00000213380
OMIM: 606979, Gene2Phenotype
COG8 is in 8 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q96MW5-1
Created: 9 Jan 2020, 2:29 p.m. | Last Modified: 9 Jan 2020, 2:29 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:29 p.m.
Last Modified: 9 Jan 2020, 2:29 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 3 variants reported.
Created: 15 Dec 2016, 3:54 p.m.

Created: 15 Dec 2016, 3:54 p.m.

Panel version: 0.50

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 1:36 p.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Congenital disorder of glycosylation, type IIh 611182
Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)

OMIM

606979

Clinvar variants

Variants in COG8

Penetrance

Complete

Publications

Panels with this gene