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| DDG2P v3.12 | COL9A2 | Achchuthan Shanmugasundram reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8528240, 21671392, 10364514, 31090205, 12244547; Phenotypes: STICKLER SYNDROME, TYPE V, OMIM:614284, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2, OMIM:600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL9A2 | Achchuthan Shanmugasundram Publications for gene: COL9A2 were updated from 10364514; 8528240; 12244547 to 8528240; 21671392; 10364514; 31090205; 12244547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL9A2 | Rebecca Foulger reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL9A2 |
Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204 for gene: COL9A2 Publications for gene COL9A2 were changed from 21671392 to 10364514; 8528240; 12244547 |
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| DDG2P v0.1 | COL9A2 |
Rebecca Foulger gene: COL9A2 was added gene: COL9A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL9A2 were set to 21671392 Phenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V 614284 |
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