Congenital myopathyGene: SVIL
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least two terminating variants reported in two unrelated, consanguineous families with a childhood/adolescence onset myopathy (PMID 32779703).
Created: 15 Sep 2020, 3:13 p.m. | Last Modified: 15 Sep 2020, 3:13 p.m.
Panel Version: 2.7
Four individuals from two unrelated consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. Functional studies on muscle biopsies showed complete loss protein in muscle fibres by western blot.
Created: 8 Sep 2020, 10:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag watchlist tag was added to gene: SVIL.
Gene: svil has been classified as Amber List (Moderate Evidence).
gene: SVIL was added gene: SVIL was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SVIL were set to 32779703 Phenotypes for gene: SVIL were set to Myopathy Review for gene: SVIL was set to AMBER