Early onset or syndromic epilepsy

Gene: COG7

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

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

• 17395513

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.

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