Activity
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7 actions
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| DDG2P v6.385 | TPM2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TPM2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TPM2 | Achchuthan Shanmugasundram edited their review of gene: TPM2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TPM2-related arthrogryposis, distal are strong, monoallelic_autosomal and undetermined (PMID:12592607). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01665.; Changed phenotypes to: ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120, MONDO:0007157, TPM2-related arthrogryposis, distal, OMIM:108120.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPM2 | Achchuthan Shanmugasundram reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12592607; Phenotypes: ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TPM2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TPM2. Mode of pathogenicity for gene TPM2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.104 | TPM2 | Rebecca Foulger Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1 108120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TPM2 | Rebecca Foulger reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TPM2 |
Rebecca Foulger gene: TPM2 was added gene: TPM2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM2 were set to 12592607 Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1 Mode of pathogenicity for gene: TPM2 was set to Other - please provide details in the comments |
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