Early onset or syndromic epilepsy
Gene: COG7
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
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
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 Gen2PhenCreated: 14 Aug 2018, 8:30 a.m.
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
Source Wessex and West Midlands GLH was added to COG7.
Source NHS GMS was added to COG7.
Zornitza Stark: Seizures are a prominent part
Gene: cog7 has been classified as Green List (High Evidence).
Publications for gene: COG7 were set to 15107842; 17356545; 19577670
Publications for gene: COG7 were set to 15107842; 17356545
Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe, 608779
Mode of inheritance for gene: COG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: COG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: cog7 has been classified as Green List (High Evidence).
Expert Review Amber was added to COG7. Panel: Genetic Epilepsy Syndromes
COG7 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COG7 was created by Sarah Leigh