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| DDG2P v3.12 | COL10A1 | Achchuthan Shanmugasundram reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7607655, 17403716, 9852679, 8554571, 8012364, 9525992, 9468540, 8304336, 8986632, 9067753, 10991694, 8004099, 12554676, 7749409; Phenotypes: SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA, OMIM:156500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL10A1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COL10A1 was changed from Other - please provide details in the comments to Other Publications for gene: COL10A1 were updated from 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716 to 7607655; 9852679; 17403716; 12554676; 8554571; 8012364; 9468540; 8986632; 9067753; 8004099; 10991694; 8304336; 9525992; 7749409 |
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| DDG2P v0.2 | COL10A1 | Rebecca Foulger reviewed gene: COL10A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL10A1 |
Rebecca Foulger gene: COL10A1 was added gene: COL10A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL10A1 were set to 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716 Phenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500 Mode of pathogenicity for gene: COL10A1 was set to Other - please provide details in the comments |
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