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| DDG2P v3.12 | GDF5 | Achchuthan Shanmugasundram reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222676, 11857750, 12124730, 16532400, 11846737, 10080184, 18283415, 16127465, 2703235, 12121354, 16892395, 9288098, 12900894, 18629880; Phenotypes: ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, OMIM:200700, GDF5-related Symphalangism Spectrum Disorder, OMIM:185800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GDF5 | Achchuthan Shanmugasundram Publications for gene: GDF5 were updated from 2703235 to 16222676; 11857750; 12124730; 16532400; 11846737; 16127465; 2703235; 12121354; 16892395; 12900894; 18283415; 9288098; 10080184; 18629880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GDF5 | Rebecca Foulger reviewed gene: GDF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF5 | Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE A2 112600 for gene: GDF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF5 |
Rebecca Foulger Added phenotypes ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250 for gene: GDF5 Publications for gene GDF5 were changed from 16127465; 10080184; 11857750; 11846737; 16892395; 18283415 to 2703235 |
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| DDG2P v0.1 | GDF5 |
Rebecca Foulger Added phenotypes SYMPHALANGISM PROXIMAL SYNDROME 185800 for gene: GDF5 Publications for gene GDF5 were changed from 12121354; 16222676; 18629880 to 16127465; 10080184; 11857750; 11846737; 16892395; 18283415 |
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| DDG2P v0.1 | GDF5 | Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE A1 112500 for gene: GDF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF5 | Rebecca Foulger Added phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017 for gene: GDF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF5 |
Rebecca Foulger Added phenotypes DU PAN SYNDROME 228900 for gene: GDF5 Publications for gene GDF5 were changed from 12900894; 9288098; 12124730 to 12121354; 16222676; 18629880 |
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| DDG2P v0.1 | GDF5 | Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE C 113100 for gene: GDF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF5 |
Rebecca Foulger gene: GDF5 was added gene: GDF5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF5 were set to 12900894; 9288098; 12124730 Phenotypes for gene: GDF5 were set to ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700 Mode of pathogenicity for gene: GDF5 was set to Other - please provide details in the comments |
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