Activity
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11 actions
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| DDG2P v6.201 | HOXD13 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HOXD13 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HOXD13 | Achchuthan Shanmugasundram edited their review of gene: HOXD13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HOXD13-related brachydactyly-syndactyly syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 12414828, 12649808, 12900906, 17236141, 19060004, 8817328, 9758628). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00949.; Changed publications to: 8817328, 17236141, 19060004, 12900906, 12414828, 9758628, 12649808; Changed phenotypes to: OMIM:610713.0, MONDO:0012544, HOXD13-related brachydactyly-syndactyly syndrome, BRACHYDACTYLY-SYNDACTYLY SYNDROME, OMIM:610713 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXD13 | Achchuthan Shanmugasundram reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12900906, 12414828, 17236141, 9758628, 12649808, 8817328, 19060004; Phenotypes: BRACHYDACTYLY-SYNDACTYLY SYNDROME, OMIM:610713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HOXD13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HOXD13 was changed from Other - please provide details in the comments to Other Publications for gene: HOXD13 were updated from 12649808 to 12900906; 12414828; 17236141; 9758628; 12649808; 8817328; 19060004 |
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| DDG2P v0.2 | HOXD13 | Rebecca Foulger reviewed gene: HOXD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HOXD13 |
Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE D 113200 for gene: HOXD13 Publications for gene HOXD13 were changed from 17236141 to 12649808 |
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| DDG2P v0.1 | HOXD13 | Rebecca Foulger Added phenotypes BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713 for gene: HOXD13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HOXD13 | Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE E 113300 for gene: HOXD13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HOXD13 |
Rebecca Foulger Added phenotypes SYNDACTYLY TYPE 5 186300 for gene: HOXD13 Publications for gene HOXD13 were changed from 19060004; 9758628; 12900906; 8817328; 12414828 to 17236141 |
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| DDG2P v0.1 | HOXD13 |
Rebecca Foulger Added phenotypes SYNPOLYDACTYLY 1 186000 for gene: HOXD13 Publications for gene HOXD13 were changed from 19006232 to 19060004; 9758628; 12900906; 8817328; 12414828 |
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| DDG2P v0.1 | HOXD13 |
Rebecca Foulger gene: HOXD13 was added gene: HOXD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXD13 were set to 19006232 Phenotypes for gene: HOXD13 were set to VACTERL ASSOCIATION 192350 Mode of pathogenicity for gene: HOXD13 was set to Other - please provide details in the comments |
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