Early onset or syndromic epilepsy
Gene: EPG5
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 Vici syndrome - rare congenital multisystem disorder characterised by agenesis of corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy and variable immunodeficiency. Seizures have been reported as a variable feature - Cullup et al, 2013. Ehmke et al, 2014 - review of the clinical features of all 27 reported patients - 13/27 had seizures s part of the phenotype (~50%). Cullup et al, 2013 - in 16 patients from 13 unrelated families hom/compound het variants identifed. 9 had been prev reportedall mutations truncating or splice site except for 2 missense. in 2 families no variant was detected. Ehmke et al 2014 - Iranian child with consng parents - hom truncating variant. Mallard et al, 2017 - affected girl comound het for a missense and a fs.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
Vici syndrome,242840
Publications
Comment on list classification: Added to this panel due to input from Arianna Tucci (Genomics England Clinical Team), after reviewing the Vici panel.Created: 28 Jul 2017, 2:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Publications
Source Wessex and West Midlands GLH was added to EPG5.
Source NHS GMS was added to EPG5.
Ellen McDonagh: Comment on list classification
Victorian Clinical Genetics Services was added to EPG5. Panel: Genetic Epilepsy Syndromes
EPG5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
EPG5 was created by Sarah Leigh