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| Arthrogryposis v5.6 | SVIL | Achchuthan Shanmugasundram Classified gene: SVIL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.6 | SVIL | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.6 | SVIL | Achchuthan Shanmugasundram Gene: svil has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.5 | SVIL | Achchuthan Shanmugasundram Phenotypes for gene: SVIL were changed from myopathy; contractures; raised CK to Myofibrillar myopathy 10, OMIM:619040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.4 | SVIL | Achchuthan Shanmugasundram reviewed gene: SVIL: Rating: AMBER; Mode of pathogenicity: None; Publications: 32779703; Phenotypes: Myofibrillar myopathy 10, OMIM:619040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.4 | SVIL |
Tracy Lester 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 Added comment: 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 |
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