Activity
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6 actions
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| DDG2P v6.374 | TBXAS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TBXAS1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TBXAS1 | Achchuthan Shanmugasundram edited their review of gene: TBXAS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TBXAS1-related ghosal hematodiaphyseal syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 18264100, 33595912, 35395429). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00704.; Changed publications to: 18264100, 33595912, 35395429; Changed phenotypes to: MONDO:0009274, GHOSAL HEMATODIAPHYSEAL SYNDROME, OMIM:231095, TBXAS1-related ghosal hematodiaphyseal syndrome, OMIM:231095.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBXAS1 | Achchuthan Shanmugasundram reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: GHOSAL HEMATODIAPHYSEAL SYNDROME, OMIM:231095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBXAS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TBXAS1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBXAS1 | Rebecca Foulger reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TBXAS1 |
Rebecca Foulger gene: TBXAS1 was added gene: TBXAS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME 231095 Mode of pathogenicity for gene: TBXAS1 was set to Other - please provide details in the comments |
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