1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. SVIL
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: SVIL

Amber List (moderate evidence)
SVIL (supervillin)
EnsemblGeneIds (GRCh38): ENSG00000197321
EnsemblGeneIds (GRCh37): ENSG00000197321
OMIM: 604126, Gene2Phenotype
SVIL is in 4 panels

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
Created: 15 Sep 2020, 3:13 p.m.
Last Modified: 15 Sep 2020, 3:13 p.m.
Copied from panel: Congenital myopathy v3.104

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

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

Copied from panel: Congenital myopathy v3.104

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Myofibrillar myopathy 10, OMIM:619040
Tags
watchlist
OMIM
604126
Clinvar variants
Variants in SVIL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: SVIL was added gene: SVIL was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Amber,Literature watchlist tags were added to gene: SVIL. 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 Myofibrillar myopathy 10, OMIM:619040