Genetic Epilepsy
Gene: COG7

COG7 (component of oligomeric golgi complex 7)
EnsemblGeneIds (GRCh38): ENSG00000168434
EnsemblGeneIds (GRCh37): ENSG00000168434
OMIM: 606978, Gene2Phenotype
COG7 is in 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.

Three families reported, IVS1+4A-C variant is recurrent, supportive functional data.
Created: 3 May 2022, 11:12 p.m. | Last Modified: 3 May 2022, 11:12 p.m.

Panel Version: 0.13643

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIe , MIM#608779

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 May 2022, 11:12 p.m.
Last Modified: 3 May 2022, 11:12 p.m.
Panel version: Imported from Mendeliome panel version 0.13643

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Congenital disorder of glycosylation, type IIe , MIM#608779

OMIM

606978

Clinvar variants

Variants in COG7

Penetrance

None

Publications

Panels with this gene