Arthrogryposis
Gene: SVIL
Comment on list classification: This gene should be rated AMBER as there is only limited evidence available: Two unrelated cases of myofibrillar myopathy (MIM #619040) with contractures.Created: 2 May 2023, 9:22 a.m. | Last Modified: 2 May 2023, 9:22 a.m.
Panel Version: 5.6
As reviewed by Tracy Lester (Genetics laboratory, Oxford UK), contractures of variable severity (family 1: long finger flexors, slight shortening of Achilles tendons; family 2: knee, ankles, elbow, fingers) have been reported in two unrelated families in PMID:32779703.Created: 2 May 2023, 9:20 a.m. | Last Modified: 2 May 2023, 9:20 a.m.
Panel Version: 5.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myofibrillar myopathy 10, OMIM:619040
Publications
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
Sources: NHS GMSCreated: 26 Apr 2023, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
myopathy; contractures; raised CK
Publications
Gene: svil has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SVIL were changed from myopathy; contractures; raised CK to Myofibrillar myopathy 10, OMIM:619040
gene: SVIL was added gene: SVIL was added to Arthrogryposis. Sources: NHS GMS 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; contractures; raised CK Penetrance for gene: SVIL were set to unknown Review for gene: SVIL was set to AMBER