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  2. Early onset or syndromic epilepsy
  3. COG4
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Early onset or syndromic epilepsy

Gene: COG4

Amber List (moderate evidence)
COG4 (component of oligomeric golgi complex 4)
EnsemblGeneIds (GRCh38): ENSG00000103051
EnsemblGeneIds (GRCh37): ENSG00000103051
OMIM: 606976, Gene2Phenotype
COG4 is in 12 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
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 of a type II congenital disorder of glycosylation where seizures were a feature (PMID 21185756). Very few variants reported.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation type IIj, 613489 ; Saul-Wilson syndrome, 618150

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Based on reviewers' comments.
Created: 11 Dec 2018, 4:39 p.m.
Created: 11 Dec 2018, 4:39 p.m.

Panel version: 0.1586

Zornitza Stark (Australian Genomics)

I don't know

Seizures are a rare manifestation, Amber or Red for this panel.
Created: 10 Aug 2018, 5:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIj, MIM#613489

Created: 10 Aug 2018, 5:08 a.m.

Panel version: 0.315

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIj, OMIM:613489
OMIM
606976
Clinvar variants
Variants in COG4
Penetrance
None
Panels with this gene

History Filter Activity

29 Jul 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj, OMIM:613489

29 Jul 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: COG4 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to COG4.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to COG4.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a rare manifestat

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cog4 has been classified as Amber List (Moderate Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to COG4. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COG4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

COG4 was created by Sarah Leigh