Activity
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6 actions
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| DDG2P v6.155 | EMG1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: EMG1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EMG1 | Achchuthan Shanmugasundram edited their review of gene: EMG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EMG1-related Bowen-Conradi syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 19463982, 25708872, 26676230, 27798105). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01877.; Changed publications to: 25708872, 19463982, 26676230, 27798105; Changed phenotypes to: OMIM:211180.0, Bowen-Conradi syndrome, OMIM:211180, EMG1-related Bowen-Conradi syndrome, MONDO:0008879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMG1 | Achchuthan Shanmugasundram reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26676230, 27798105, 19463982, 25708872; Phenotypes: Bowen-Conradi syndrome, OMIM:211180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EMG1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1. Mode of pathogenicity for gene EMG1 was changed from Other - please provide details in the comments to Other Publications for gene: EMG1 were updated from 26676230; 19463982; 25708872; 27798105 to 26676230; 27798105; 19463982; 25708872 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | EMG1 | Rebecca Foulger reviewed gene: EMG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EMG1 |
Rebecca Foulger gene: EMG1 was added gene: EMG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMG1 were set to 26676230; 19463982; 25708872; 27798105 Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome Mode of pathogenicity for gene: EMG1 was set to Other - please provide details in the comments |
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