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| DDG2P v3.12 | COL9A1 | Achchuthan Shanmugasundram reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909383, 11565064; Phenotypes: STICKLER SYNDROME TYPE 4, OMIM:614134, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6, OMIM:614135; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL9A1 | Achchuthan Shanmugasundram Publications for gene: COL9A1 were updated from 11565064 to 16909383; 11565064 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL9A1 | Rebecca Foulger reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL9A1 |
Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135 for gene: COL9A1 Publications for gene COL9A1 were changed from 16909383 to 11565064 |
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| DDG2P v0.1 | COL9A1 |
Rebecca Foulger gene: COL9A1 was added gene: COL9A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL9A1 were set to 16909383 Phenotypes for gene: COL9A1 were set to STICKLER SYNDROME TYPE 4 614134 |
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