Congenital disorders of glycosylation
Gene: COG4

COG4 (component of oligomeric golgi complex 4)
EnsemblGeneIds (GRCh38): ENSG00000103051
EnsemblGeneIds (GRCh37): ENSG00000103051
OMIM: 606976, Gene2Phenotype
COG4 is in 12 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9H9E3-1
Created: 9 Jan 2020, 11:35 a.m. | Last Modified: 9 Jan 2020, 11:35 a.m.

Panel Version: 2.0

Created: 9 Jan 2020, 11:35 a.m.
Last Modified: 9 Jan 2020, 11:35 a.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 4 variants reported as compound heterozygotes, together with supporting in vitro evidence.
Created: 15 Dec 2016, 2:38 p.m.

Created: 15 Dec 2016, 2:38 p.m.

Panel version: 0.46

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Type II N-glycosylation defect with incompletely processed glycan chains, also contains O-glycosylation defects. Based on model organism studies expected to contain defects in glycolipid biosynthesis as well, although this has not been shown in patients.
Created: 8 Dec 2016, 5:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 8 Dec 2016, 5:51 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 IIj 613489
Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)

OMIM

606976

Clinvar variants

Variants in COG4

Penetrance

Complete

Publications

Panels with this gene