Dilated Cardiomyopathy and conduction defects
Gene: EPG5
Vici syndrome OMIM#242840Created: 25 Mar 2019, 4:30 p.m.
Cullop, Nat Genet. 2013 January ; 45(1): 8387. 13 individuals with AR Vici syndrome which features include: callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation - patients are all paediatric so suggest paediatric panel. Ehmke 2014 - reviewed literature - 24 cases , including their patient who was homozygous for a variant in penultimate exon of the gene (Am J Med Genet A. 2014 Dec;164A(12):3170-5). Byrne 2016 (BRAIN 2016: 139; 765781) again review of literature mentions 50 cases, the consistent features do not include cardiomyopathy but is a frequent feature. Includes a knock down drosophilia model.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.Created: 17 Jan 2019, 5:41 p.m.
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, 2:24 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 South West GLH was added to EPG5.
Source Wessex and West Midlands GLH was added to EPG5. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
EPG5 was created by ellenmcdonagh
EPG5 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review