| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 | UNC45B | Bryony Thompson Marked gene: UNC45B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 | UNC45B | Bryony Thompson Gene: unc45b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 | UNC45B | Bryony Thompson Classified gene: UNC45B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 | UNC45B | Bryony Thompson Gene: unc45b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 | UNC45B |
Sangavi Sivagnanasundram gene: UNC45B was added gene: UNC45B was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45B were set to 33217308; 31852522 Phenotypes for gene: UNC45B were set to Myofibrillar myopathy 11 (MIM#619178) Review for gene: UNC45B was set to GREEN Added comment: Onset is within the first decade of life typically indicated by slow progression of proximal muscle weakness. PMID: 33217308; 31852522 11 individuals from 9 unrelated families with symptoms of progressive proximal muscle weakness. PMID: 31852522 Muscle biopsy was conducted on one individual which showed myopathic changes with core-like structures Sources: Other |
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