Activity
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 | SVIL | Eleanor Williams Tag watchlist tag was added to gene: SVIL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 | SVIL |
Ida Ertmanska changed review comment from: PMID: 32779703 Hedberg-Oldfors et al., 2020 Report of 2 unrelated consanguineous families with myofibrillar myopathy. Muscle biopsy showed Structural myopathy with prominent lobulated type 1 fibres, myofibrillar disintegration and signs of altered proteostasis/impaired autophagy in all 4 affected individuals. All patients showed increased creatine kinase levels, but no or minor muscle weakness. Variable presentation, including muscle pain, slowly progressive stiffness, exercise intolerance, as well as distinct anomalies of neck and shoulder girdle; 3/4 patients presented with contractures. Very mild heart involvement. Seq method: WES/ targeted exome with Sanger confirmation. Family 1: Lebanese, 2 sibs affected, both homozygous for c.4812C>A, p.(Tyr1604*) - variant not in gnomAD v4.1.0. Symptom onset: childhood/adolescence. Family 2: Turkish, 2 sibs affected, both homozygous for c.3578_3579del, p.(Val1193Glufs*46) - variant not in gnomAD v4.1.0; symptoms onset at birth/ in infancy. SVIL is associated with AR Myofibrillar myopathy 10, MIM: 619040 (OMIM accessed 24th Nov 2025). Sources: Literature; to: PMID: 32779703 Hedberg-Oldfors et al., 2020 Report of 2 unrelated consanguineous families with myopathy with myofibrillar disorganization. Muscle biopsy showed Structural myopathy with prominent lobulated type 1 fibres, myofibrillar disintegration and signs of altered proteostasis/impaired autophagy in all 4 affected individuals. All patients showed increased creatine kinase levels, but no or minor muscle weakness. Variable presentation, including muscle pain, slowly progressive stiffness, exercise intolerance, as well as distinct anomalies of neck and shoulder girdle; 3/4 patients presented with contractures. Very mild heart involvement. Seq method: WES/ targeted exome with Sanger confirmation. Family 1: Lebanese, 2 sibs affected, both homozygous for c.4812C>A, p.(Tyr1604*) - variant not in gnomAD v4.1.0. Symptom onset: childhood/adolescence. Family 2: Turkish, 2 sibs affected, both homozygous for c.3578_3579del, p.(Val1193Glufs*46) - variant not in gnomAD v4.1.0; symptoms onset at birth/ in infancy. SVIL is associated with AR Myofibrillar myopathy 10, MIM: 619040 (OMIM accessed 24th Nov 2025). Sources: Literature |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 | SVIL | Ida Ertmanska changed review comment from: Comment on list classification: There are 4 individuals from 2 unrelated families reported in literature with homozygous nonsense variants in SVIL, diagnosed with myofibrillar myopathy. This gene should be rated Amber on Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies until more evidence emerges.; to: Comment on list classification: There are 4 individuals from 2 unrelated families reported in literature with homozygous nonsense variants in SVIL, diagnosed with myopathy with myofibrillar disorganization. This gene should be rated Amber on Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 | SVIL | Ida Ertmanska edited their review of gene: SVIL: Changed phenotypes to: Myofibrillar myopathy 10, OMIM:619040, myofibrillar myopathy 10, MONDO:0033620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 | SVIL | Ida Ertmanska Phenotypes for gene: SVIL were changed from Myofibrillar myopathy 10, OMIM:619040 to Myofibrillar myopathy 10, OMIM:619040; myofibrillar myopathy 10, MONDO:0033620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.21 | SVIL | Ida Ertmanska Classified gene: SVIL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.21 | SVIL | Ida Ertmanska Added comment: Comment on list classification: There are 4 individuals from 2 unrelated families reported in literature with homozygous nonsense variants in SVIL, diagnosed with myofibrillar myopathy. This gene should be rated Amber on Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.21 | SVIL | Ida Ertmanska Gene: svil has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.20 | SVIL | Ida Ertmanska edited their review of gene: SVIL: Changed rating: AMBER; Changed publications to: 32779703 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.20 | SVIL |
Ida Ertmanska changed review comment from: Sources: Literature; to: PMID: 32779703 Hedberg-Oldfors et al., 2020 Report of 2 unrelated consanguineous families with myofibrillar myopathy. Muscle biopsy showed Structural myopathy with prominent lobulated type 1 fibres, myofibrillar disintegration and signs of altered proteostasis/impaired autophagy in all 4 affected individuals. All patients showed increased creatine kinase levels, but no or minor muscle weakness. Variable presentation, including muscle pain, slowly progressive stiffness, exercise intolerance, as well as distinct anomalies of neck and shoulder girdle; 3/4 patients presented with contractures. Very mild heart involvement. Seq method: WES/ targeted exome with Sanger confirmation. Family 1: Lebanese, 2 sibs affected, both homozygous for c.4812C>A, p.(Tyr1604*) - variant not in gnomAD v4.1.0. Symptom onset: childhood/adolescence. Family 2: Turkish, 2 sibs affected, both homozygous for c.3578_3579del, p.(Val1193Glufs*46) - variant not in gnomAD v4.1.0; symptoms onset at birth/ in infancy. SVIL is associated with AR Myofibrillar myopathy 10, MIM: 619040 (OMIM accessed 24th Nov 2025). Sources: Literature |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.20 | SVIL |
Ida Ertmanska gene: SVIL was added gene: SVIL was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SVIL were set to Myofibrillar myopathy 10, OMIM:619040 Review for gene: SVIL was set to GREEN Added comment: Sources: Literature |
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