Early onset or syndromic epilepsy

Gene: COG6

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

I don't know

A case report (PMID: 20605848) with intractable seizures as part of the CDG phenotype, and additionally a further patient in PMID 26260076 who has seizures as part of their CDG phenotype

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 IIl, 614576 ; Shaheen syndrome, 615328

Publications

• 20605848

Comment when marking as ready: Based on reviewers' comments.

Created: 11 Dec 2018, 4:46 p.m.

Comment on phenotypes: Congenital disorder of glycosylation, type Iil 614576

Created: 6 Dec 2018, 12:44 p.m.

I don't know

Seizures have been described in some patients with this metabolic disorder, borderline Amber/Green.

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iil, MIM#614576

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