Activity
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6 actions
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| DDG2P v6.27 | ACVR2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACVR2B was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ACVR2B | Achchuthan Shanmugasundram edited their review of gene: ACVR2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACVR2B-related heterotaxy syndrome are limited, monoallelic_autosomal and undetermined (PMIDs: 21864452, 30622330, 9916847). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00465.; Changed publications to: 30622330, 21864452, 9916847; Changed phenotypes to: OMIM:613751.0, MONDO:0013403, HETEROTAXY SYNDROME, OMIM:207574, ACVR2B-related heterotaxy syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACVR2B | Achchuthan Shanmugasundram reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACVR2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene ACVR2B was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACVR2B | Rebecca Foulger reviewed gene: ACVR2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACVR2B |
Rebecca Foulger gene: ACVR2B was added gene: ACVR2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVR2B were set to HETEROTAXY SYNDROME 207574 Mode of pathogenicity for gene: ACVR2B was set to Other - please provide details in the comments |
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