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| DDG2P v6.385 | TPM3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TPM3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TPM3 | Achchuthan Shanmugasundram edited their review of gene: TPM3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TPM3-related congenital myopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 24692096, 33768912). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03244.; Changed publications to: 24692096, 33768912; Changed phenotypes to: TPM3-related congenital myopathy, Nemaline/Cap myopathy, OMIM:255310.0, MONDO:0800341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPM3 | Achchuthan Shanmugasundram reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33768912, 24692096; Phenotypes: Nemaline/Cap myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TPM3 |
Achchuthan Shanmugasundram gene: TPM3 was added gene: TPM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM3 were set to 33768912; 24692096 Phenotypes for gene: TPM3 were set to Nemaline/Cap myopathy Mode of pathogenicity for gene: TPM3 was set to Other |
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