Early onset or syndromic epilepsy
Gene: COG4
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
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
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 4:39 p.m.
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
Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj, OMIM:613489
Mode of inheritance for gene: COG4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Wessex and West Midlands GLH was added to COG4.
Source NHS GMS was added to COG4.
Zornitza Stark: Seizures are a rare manifestat
Gene: cog4 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to COG4. Panel: Genetic Epilepsy Syndromes
COG4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COG4 was created by Sarah Leigh