Activity
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6 actions
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| DDG2P v6.150 | DSE | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DSE was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DSE | Achchuthan Shanmugasundram edited their review of gene: DSE: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DSE-related Ehlers-Danlos syndrome, musculocontractural are limited, biallelic_autosomal and undetermined (PMID:23704329). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01694.; Changed phenotypes to: OMIM:615539.0, MONDO:0014236, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OMIM:615539, DSE-related Ehlers-Danlos syndrome, musculocontractural | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSE | Achchuthan Shanmugasundram reviewed gene: DSE: Rating: RED; Mode of pathogenicity: Other; Publications: 23704329; Phenotypes: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OMIM:615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DSE | Achchuthan Shanmugasundram Mode of pathogenicity for gene DSE was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DSE | Rebecca Foulger reviewed gene: DSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DSE |
Rebecca Foulger gene: DSE was added gene: DSE was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSE were set to 23704329 Phenotypes for gene: DSE were set to EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539 Mode of pathogenicity for gene: DSE was set to Other - please provide details in the comments |
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