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Genetic epilepsy syndromes

Gene: COG8

Amber List (moderate evidence)

COG8 (component of oligomeric golgi complex 8)
EnsemblGeneIds (GRCh38): ENSG00000213380
EnsemblGeneIds (GRCh37): ENSG00000213380
OMIM: 606979, Gene2Phenotype
COG8 is in 9 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Single case report where seizures have been documented (PMID 17331980).
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Phenotypes
Congenital disorder of glycosylation, type IIh, 611182

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Based on reviewers' comments.
Created: 11 Dec 2018, 4:47 p.m.

Zornitza Stark (Australian Genomics)

Out of the three patients described in the literature with this rare CDG, two had seizures.
Created: 10 Aug 2018, 5:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIh, MIM#82

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIh 611182
OMIM
606979
Clinvar variants
Variants in COG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to COG8.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to COG8.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Out of the three patients desc

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cog8 has been classified as Amber List (Moderate Evidence).

6 Dec 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh 611182

6 Dec 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COG8 were set to

6 Dec 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: COG8 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to COG8. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COG8 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

COG8 was created by Sarah Leigh