Combined Immunodeficiency
Gene: EPG5
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Well established gene disease association, over 50 families reported.Created: 14 Oct 2020, 10:10 a.m. | Last Modified: 14 Oct 2020, 10:10 a.m.
Panel Version: 0.165
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vici syndrome, MIM# 242840
Publications
Gene: epg5 has been classified as Green List (High Evidence).
Phenotypes for gene: EPG5 were changed from to Vici syndrome, MIM# 242840
Publications for gene: EPG5 were set to
Mode of inheritance for gene: EPG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: EPG5 was added gene: EPG5 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: EPG5 was set to Unknown