Genetic Epilepsy
Gene: COG8

COG8 (component of oligomeric golgi complex 8)
EnsemblGeneIds (GRCh38): ENSG00000213380
EnsemblGeneIds (GRCh37): ENSG00000213380
OMIM: 606979, Gene2Phenotype
COG8 is in 7 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

No pathogenic missense reported

PMID: 30690882 reports exon 5 as a potential hotspot. Additional antenatal phenotypes described.

PMID: 17331980 demonstrated patient with chet PTC/splice had reduced COG8 protein and mislocalization of other COG proteins. Effects were rescued by transfecting wildtype protein into patient fibroblasts.
Created: 29 Oct 2020, 10:27 p.m. | Last Modified: 29 Oct 2020, 10:27 p.m.

Panel Version: 0.5174

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIh 611182

Publications

PMID: 30690882
17331980

Created: 29 Oct 2020, 10:27 p.m.
Last Modified: 29 Oct 2020, 10:27 p.m.
Panel version: Imported from Mendeliome panel version 0.5174

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Small overall number of individuals reported, seizures are a rare feature.
Created: 21 Jan 2020, 7:09 a.m. | Last Modified: 21 Jan 2020, 7:09 a.m.

Panel Version: 0.203

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIh, 611182

Publications

Created: 21 Jan 2020, 7:09 a.m.
Last Modified: 21 Jan 2020, 7:09 a.m.
Panel version: 0.203

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Congenital disorder of glycosylation, type IIh, 611182

OMIM

606979

Clinvar variants

Variants in COG8

Penetrance

None

Publications

Panels with this gene