Cardiomyopathies - including childhood onsetGene: EPG5
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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. 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 talks of 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
Source NHS GMS was added to EPG5.
gene: EPG5 was added gene: EPG5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 23838600; 26917586; 25331754; 23674064; 26395118; 28624465 Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM