Activity
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6 actions
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| DDG2P v6.146 | DLX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DLX5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DLX5 | Achchuthan Shanmugasundram edited their review of gene: DLX5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DLX5-related split-hand and foot malformation are limited, biallelic_autosomal and undetermined (PMID:22121204). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00118.; Changed phenotypes to: DLX5-related split-hand and foot malformation, MONDO:0009080, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600, OMIM:220600.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLX5 | Achchuthan Shanmugasundram reviewed gene: DLX5: Rating: RED; Mode of pathogenicity: Other; Publications: 22121204; Phenotypes: SPLIT HAND AND FOOT MALFORMATION, OMIM:220600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DLX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DLX5 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DLX5 | Rebecca Foulger reviewed gene: DLX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DLX5 |
Rebecca Foulger gene: DLX5 was added gene: DLX5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLX5 were set to 22121204 Phenotypes for gene: DLX5 were set to SPLIT HAND AND FOOT MALFORMATION 220600 Mode of pathogenicity for gene: DLX5 was set to Other - please provide details in the comments |
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