Dilated Cardiomyopathy and conduction defects

Gene: EPG5

Red List (low evidence)

Vici syndrome OMIM#242840

Created: 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

Red List (low evidence)

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

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