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| DDG2P v3.12 | COL6A3 | Achchuthan Shanmugasundram reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992252; Phenotypes: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OMIM:254090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL6A3 | Rebecca Foulger reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL6A3 |
Rebecca Foulger Added phenotypes ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090 for gene: COL6A3 Publications for gene COL6A3 were changed from 26004199 to 11992252 |
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| DDG2P v0.1 | COL6A3 |
Rebecca Foulger gene: COL6A3 was added gene: COL6A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to 26004199 Phenotypes for gene: COL6A3 were set to DYSTONIA 27 616411 |
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