Arthrogryposis

Gene: SVIL

Comment on phenotypes: OMIM phenotype accessed on 26th Nov 2025

Created: 26 Nov 2025, 12:41 p.m. | Last Modified: 26 Nov 2025, 12:41 p.m.

Panel Version: 9.14

I don't know

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

• 32779703

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
Sources: NHS GMS

Created: 26 Apr 2023, 10:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy; contractures; raised CK

Publications

• 32779703