Early onset or syndromic epilepsy
Gene: COG6
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
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 phenotypeCreated: 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
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 614576Created: 6 Dec 2018, 12:44 p.m.
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
Source Wessex and West Midlands GLH was added to COG6.
Source NHS GMS was added to COG6.
Zornitza Stark: Seizures have been described i
Gene: cog6 has been classified as Amber List (Moderate Evidence).
Publications for gene: COG6 were set to
Mode of inheritance for gene: COG6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type Iil 614576
Expert Review Amber was added to COG6. Panel: Genetic Epilepsy Syndromes
COG6 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COG6 was created by Sarah Leigh