Early onset or syndromic epilepsy

Gene: EPG5

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 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

• 25331754

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

• 23222957
• 25331754
• 26917586
• 26395118
• 23838600
• 23674064
• 28624465