Congenital myopathy

Gene: SVIL

Amber List (moderate evidence)

SVIL (supervillin)
EnsemblGeneIds (GRCh38): ENSG00000197321
EnsemblGeneIds (GRCh37): ENSG00000197321
OMIM: 604126, Gene2Phenotype
SVIL is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

I don't know

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.
Sources: Literature
Created: 8 Sep 2020, 10:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Myopathy
Tags
watchlist
OMIM
604126
Clinvar variants
Variants in SVIL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Sep 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: SVIL.

15 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: svil has been classified as Amber List (Moderate Evidence).

8 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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