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| DDG2P v3.12 | COL11A2 | Achchuthan Shanmugasundram reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16033917, 10581026, 16189708, 15558753, 16637051, 7833911, 15372529, 10677296, 7859284, 9506662, 14234962; Phenotypes: STICKLER SYNDROME TYPE 3, OMIM:184840, DEAFNESS AUTOSOMAL DOMINANT TYPE 13, OMIM:601868, DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, OMIM:609706, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OMIM:215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL11A2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COL11A2 was changed from Other - please provide details in the comments to Other Publications for gene: COL11A2 were updated from 15558753; 14234962 to 16033917; 10581026; 16189708; 15558753; 16637051; 7833911; 15372529; 10677296; 7859284; 9506662; 14234962 |
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| DDG2P v1.84 | COL11A2 | Rebecca Foulger Phenotypes for gene: COL11A2 were changed from WEISSENBACHER-ZWEYMUELLER SYNDROME 277610; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150; DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868; STICKLER SYNDROME TYPE 3 184840; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 to WEISSENBACHER-ZWEYMUELLER SYNDROME 184840; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150; DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868; STICKLER SYNDROME TYPE 3 184840; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL11A2 | Rebecca Foulger reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL11A2 |
Rebecca Foulger Added phenotypes WEISSENBACHER-ZWEYMUELLER SYNDROME 277610 for gene: COL11A2 Publications for gene COL11A2 were changed from 15372529; 9506662; 7833911 to 15558753; 14234962 |
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| DDG2P v0.1 | COL11A2 |
Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 3 184840 for gene: COL11A2 Publications for gene COL11A2 were changed from 16033917 to 15372529; 9506662; 7833911 |
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| DDG2P v0.1 | COL11A2 |
Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 for gene: COL11A2 Publications for gene COL11A2 were changed from 10581026 to 16033917 |
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| DDG2P v0.1 | COL11A2 |
Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868 for gene: COL11A2 Publications for gene COL11A2 were changed from 10677296; 7859284; 16637051; 16189708 to 10581026 |
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| DDG2P v0.1 | COL11A2 |
Rebecca Foulger gene: COL11A2 was added gene: COL11A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL11A2 were set to 10677296; 7859284; 16637051; 16189708 Phenotypes for gene: COL11A2 were set to AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150 Mode of pathogenicity for gene: COL11A2 was set to Other - please provide details in the comments |
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