Genetic epilepsy syndromesGene: COG8
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
Comment when marking as ready: Based on reviewers' comments.
Created: 11 Dec 2018, 4:47 p.m.
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
Congenital disorder of glycosylation, type IIh, MIM#82
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to COG8.
Source NHS GMS was added to COG8.
Zornitza Stark: Out of the three patients desc
Gene: cog8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh 611182
Publications for gene: COG8 were set to
Mode of inheritance for gene: COG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to COG8. Panel: Genetic Epilepsy Syndromes
COG8 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COG8 was created by Sarah Leigh