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Genetic epilepsy syndromes

Gene: COG7

Green List (high evidence)

COG7 (component of oligomeric golgi complex 7)
EnsemblGeneIds (GRCh38): ENSG00000168434
EnsemblGeneIds (GRCh37): ENSG00000168434
OMIM: 606978, Gene2Phenotype
COG7 is in 11 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: John Taylor and Helen Lord. Suggested gene rating: Green.
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)

Green List (high evidence)

AR Congenital disorder of glycosylation type IIe - Epilepsy has been reported in this syndrome - Wu et al, 2004 - 2 sibs both developed severe epilepsy and died at 5 and 10 weeks respectively (recurrent infections and cardiac insufficiency) - hom splice site variant. Ng et al, 2007 - female born to consang Moroccan parents - developed seizures and died at 3.5 months. Morava et al, 2007- in 2 families 2/3 individuals (diff families) had changes on EEG - paroxysomal changes with multi-focal sharp waves and generalised frontal activity. Table 1 in this paper shows these patients both had convulsions which were also reported in patients in the Wu et al, Spaapen et al papers. The 2 Morova et al families had the same splicing change.
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, 608779

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in 3 unrelated families, together with supportive in vitro studies (PMID 19577670). Variants in this gene are reported as part of current diagnostic practice (Zornitza Stark (Australian Genomics)).
Created: 14 Aug 2018, 8:39 a.m.
Comment on mode of inheritance: MOI from Gen2Phen
Created: 14 Aug 2018, 8:30 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a prominent part of the phenotype.
Created: 10 Aug 2018, 5:12 a.m.

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIe, 608779
OMIM
606978
Clinvar variants
Variants in COG7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to COG7.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to COG7.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a prominent part

14 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cog7 has been classified as Green List (High Evidence).

14 Aug 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COG7 were set to 15107842; 17356545; 19577670

14 Aug 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COG7 were set to 15107842; 17356545

14 Aug 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe, 608779

14 Aug 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: COG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

14 Aug 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: COG7 was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cog7 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to COG7. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COG7 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

COG7 was created by Sarah Leigh