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| DDG2P v3.12 | COL11A1 | Achchuthan Shanmugasundram reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10573014, 17236192, 27081569, 25091507, 25073711, 8872475, 21035103, 9529347, 10486316, 22499343; Phenotypes: FIBROCHONDROGENESIS, OMIM:228520, STICKLER SYNDROME, TYPE II, OMIM:604841; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL11A1 | Achchuthan Shanmugasundram Publications for gene: COL11A1 were updated from 10573014; 8872475 to 10573014; 17236192; 27081569; 25091507; 25073711; 8872475; 21035103; 9529347; 10486316; 22499343 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL11A1 | Rebecca Foulger reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL11A1 |
Rebecca Foulger Added phenotypes STICKLER SYNDROME, TYPE II 604841 for gene: COL11A1 Publications for gene COL11A1 were changed from 21035103 to 10573014; 8872475 |
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| DDG2P v0.1 | COL11A1 |
Rebecca Foulger gene: COL11A1 was added gene: COL11A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL11A1 were set to 21035103 Phenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS 228520 |
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