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| DDG2P v3.12 | COL6A2 | Achchuthan Shanmugasundram reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34167565, 15563506, 20106987, 11381124, 16075202, 19564581, 12218063; Phenotypes: COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090, COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL6A2 |
Achchuthan Shanmugasundram gene: COL6A2 was added gene: COL6A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL6A2 were set to 34167565; 15563506; 20106987; 11381124; 16075202; 19564581; 12218063 Phenotypes for gene: COL6A2 were set to COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090; COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090 |
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