| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.108 | VPS13A | Bryony Thompson Marked gene: VPS13A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.108 | VPS13A | Bryony Thompson Gene: vps13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.108 | VPS13A | Bryony Thompson Classified gene: VPS13A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.108 | VPS13A | Bryony Thompson Gene: vps13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.107 | VPS13A |
Bryony Thompson gene: VPS13A was added gene: VPS13A was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13A were set to 33652783; 20301561 Phenotypes for gene: VPS13A were set to chorea-acanthocytosis MONDO:0008695 Review for gene: VPS13A was set to GREEN gene: VPS13A was marked as current diagnostic Added comment: Well-established gene-disease association. A feature of the condition can be progressive distal muscle wasting and weakness that can be subclinical (only creatine kinase [CK] elevation). Myopathic changes can be detected on electromyography (as well as chronic denervation). Sources: Literature |
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