| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.27 | BVES | Zornitza Stark Marked gene: BVES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.27 | BVES | Zornitza Stark Gene: bves has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.27 | BVES | Zornitza Stark Publications for gene: BVES were set to PMID: 26642364 32528171 31119192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.26 | BVES | Zornitza Stark Classified gene: BVES as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.26 | BVES | Zornitza Stark Gene: bves has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 | BVES |
Elena Savva gene: BVES was added gene: BVES was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BVES were set to PMID: 26642364 32528171 31119192 Phenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Review for gene: BVES was set to GREEN Added comment: OMIM: aka POPDC1 PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years. PMID: 32528171 - 1 patient with limb girdle weakness. PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness. Sources: Expert list |
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