Activity
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6 actions
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| DDG2P v6.244 | MATN3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MATN3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MATN3 | Achchuthan Shanmugasundram edited their review of gene: MATN3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MATN3-related multiple epiphyseal dysplasia are definitive, monoallelic_autosomal and undetermined (PMIDs: 11479597, 13849708, 14729835, 15948199). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00889.; Changed publications to: 15948199, 11479597, 13849708, 14729835; Changed phenotypes to: MATN3-related multiple epiphyseal dysplasia, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5, OMIM:607078, MONDO:0011765, OMIM:607078.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MATN3 | Achchuthan Shanmugasundram reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 14729835, 13849708, 11479597, 15948199; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5, OMIM:607078; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MATN3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MATN3 was changed from Other - please provide details in the comments to Other Publications for gene: MATN3 were updated from 15948199; 11479597; 13849708; 14729835 to 14729835; 15948199; 13849708; 11479597 |
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| DDG2P v0.2 | MATN3 | Rebecca Foulger reviewed gene: MATN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MATN3 |
Rebecca Foulger gene: MATN3 was added gene: MATN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MATN3 were set to 15948199; 11479597; 13849708; 14729835 Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078 Mode of pathogenicity for gene: MATN3 was set to Other - please provide details in the comments |
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