Muscular dystrophy and myopathy_Paediatric
Gene: EPG5
Rare congenital disorder (that is reported in multiple individuals) - individuals typically present with profound psychomotor retardation and hypotonia due to myopathy.
Age of onset is typically early childhood.
PMID: 23222957
>6 individuals from unrelated families identified with mutations in EPG5 and phenotypic features related to Vici Syndrome
Sources: OtherCreated: 8 May 2023, 4:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vici Syndrome (MONDO: 0009452; MIM#242840)
Publications
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, 10:02 a.m. | Last Modified: 14 Oct 2020, 10:02 a.m.
Panel Version: 0.269
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vici syndrome, MIM# 242840
Publications
Gene: epg5 has been classified as Green List (High Evidence).
Gene: epg5 has been classified as Green List (High Evidence).
Mode of inheritance for gene: EPG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
gene: EPG5 was added gene: EPG5 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: EPG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957 Phenotypes for gene: EPG5 were set to Vici Syndrome (MONDO: 0009452; MIM#242840) Review for gene: EPG5 was set to GREEN