Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: SVIL

Amber List (moderate evidence)

SVIL (supervillin)
EnsemblGeneIds (GRCh38): ENSG00000197321
EnsemblGeneIds (GRCh37): ENSG00000197321
OMIM: 604126, Gene2Phenotype
SVIL is in 2 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Onset is typically within the first or second decade of life while some individuals of onset in early childhood.
Typical features at onset is muscle pain, cramping, and exercise fatigue.

PMID: 32779703
2 affected individuals from 2 unrelated consanguineous families with hypertrophic muscles and muscle rigidity
Sources: Other
Created: 10 May 2023, 12:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myofibrillar myopathy 10 (MIM#619040)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myofibrillar myopathy, MIM#619040

Publications

Melanie Marty (Victorian Clinical Genetics Services)

I don't know

Four patients 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: 7 Sep 2020, 5:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy

Publications

Details

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

History Filter Activity

2 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

10 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: SVIL was added gene: SVIL was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other 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 (MIM#619040) Review for gene: SVIL was set to AMBER