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| Mendeliome v0.6396 | UNC45B | Zornitza Stark Phenotypes for gene: UNC45B were changed from Progressive Myopathy with Eccentric Cores to Myofibrillar myopathy 11, MIM# 619178; Progressive Myopathy with Eccentric Cores | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6395 | UNC45B | Zornitza Stark reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myofibrillar myopathy 11, MIM# 619178; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5559 | UNC45B | Zornitza Stark Marked gene: UNC45B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5559 | UNC45B | Zornitza Stark Gene: unc45b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5559 | UNC45B | Zornitza Stark Classified gene: UNC45B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5559 | UNC45B | Zornitza Stark Gene: unc45b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5552 | UNC45B |
Paul De Fazio gene: UNC45B was added gene: UNC45B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45B were set to 33217308 Phenotypes for gene: UNC45B were set to Progressive Myopathy with Eccentric Cores Review for gene: UNC45B was set to GREEN gene: UNC45B was marked as current diagnostic Added comment: 10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity. Sources: Literature |
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