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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.24 | ACTA1 | Zornitza Stark Marked gene: ACTA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.24 | ACTA1 | Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.24 | ACTA1 | Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.24 | ACTA1 | Zornitza Stark Publications for gene: ACTA1 were set to PMID: 28606400; 25938801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.23 | ACTA1 | Zornitza Stark Phenotypes for gene: ACTA1 were changed from ?Myopathy, scapulohumeroperoneal 616852 to Myopathy, scapulohumeroperoneal 616852 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.22 | ACTA1 | Zornitza Stark Classified gene: ACTA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.22 | ACTA1 | Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 | ACTA1 |
Elena Savva gene: ACTA1 was added gene: ACTA1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTA1 were set to PMID: 28606400; 25938801 Phenotypes for gene: ACTA1 were set to ?Myopathy, scapulohumeroperoneal 616852 Review for gene: ACTA1 was set to GREEN Added comment: PMID: 28606400 - 1 multigenerational family with dominant ACTA1-scapuloperoneal myopathy. Proband has progressive limb weakness since childhood, spinal muscular atrophy based on two EMG analyses. Affected carrier children also reported upper limb weakness with onset in chlidhood/teenage years. PMID: 25938801 - 1 large family (14 affecteds) with dominant ACTA1-scapuloperoneal myopathy. Muscle biopsy specimens demonstrated type I fiber atrophy. Many reported upper and lower body muscle weakness, with age of onset variable between early childhood and adulthood. PMID: 15832616 - 1 child with a de novo missense mutation, proximal muscle weakness and hypotonia of the shoulder girdle Sources: Expert list |
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