Activity
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9 actions
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| DDG2P v6.151 | WDR34 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR34 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | WDR34 | Achchuthan Shanmugasundram edited their review of gene: WDR34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DYNC2I2-related severe asphyxiating thoracic dysplasia are definitive, biallelic_autosomal and undetermined (PMID:24183449). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01550.; Changed phenotypes to: MONDO:0014287, OMIM:615633.0, DYNC2I2-related severe asphyxiating thoracic dysplasia, SEVERE ASPHYXIATING THORACIC DYSPLASIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR34 | Achchuthan Shanmugasundram reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24183449; Phenotypes: SEVERE ASPHYXIATING THORACIC DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR34 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WDR34 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.5 | WDR34 | Catherine Snow Tag new-gene-name tag was added to gene: WDR34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.5 | WDR34 | Catherine Snow commented on gene: WDR34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR34 | Rebecca Foulger reviewed gene: WDR34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WDR34 | Rebecca Foulger Added phenotypes SEVERE ASPHYXIATING THORACIC DYSPLASIA for gene: WDR34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WDR34 |
Rebecca Foulger gene: WDR34 was added gene: WDR34 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR34 were set to 24183449 Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III Mode of pathogenicity for gene: WDR34 was set to Other - please provide details in the comments |
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