Activity
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| DDG2P v6.404 | UNC45B | Achchuthan Shanmugasundram Mode of pathogenicity for gene: UNC45B was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UNC45B | Achchuthan Shanmugasundram edited their review of gene: UNC45B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UNC45B-related progressive myopathy with eccentric cores are strong, biallelic_autosomal and undetermined (PMID:33217308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03074.; Changed phenotypes to: UNC45B-associated Progressive Myopathy with Eccentric Cores, UNC45B-related progressive myopathy with eccentric cores, OMIM:619178.0, MONDO:0030927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UNC45B | Achchuthan Shanmugasundram reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33217308; Phenotypes: UNC45B-associated Progressive Myopathy with Eccentric Cores; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UNC45B |
Achchuthan Shanmugasundram gene: UNC45B was added gene: UNC45B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 UNC45B-associated Progressive Myopathy with Eccentric Cores Mode of pathogenicity for gene: UNC45B was set to Other |
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