Activity
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11 actions
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| DDG2P v6.351 | SMARCA2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCA2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SMARCA2 | Achchuthan Shanmugasundram edited their review of gene: SMARCA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMARCA2-related Nicolaides-Baraitser syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 22366787, 22426308, 22822383, 25169058, 27665729, 28948053, 31288860, 31813144, 32657847, 32694869, 34296532, 34521483, 35811451). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00849.; Changed publications to: 28948053, 22822383, 32694869, 34296532, 27665729, 22426308, 25169058, 31288860, 32657847, 31813144, 34521483, 35811451, 22366787; Changed phenotypes to: OMIM:601358.0, SMARCA2-related Nicolaides-Baraitser syndrome, MONDO:0011053, SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.38 | SMARCA2 | Achchuthan Shanmugasundram Phenotypes for gene: SMARCA2 were changed from COFFIN SIRIS 135900; NICOLAIDES-BARAITSER SYNDROME 601358 to SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.37 | SMARCA2 | Achchuthan Shanmugasundram Publications for gene: SMARCA2 were set to 32694869; 19606471; 22366787; 22426308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.36 | SMARCA2 | Achchuthan Shanmugasundram edited their review of gene: SMARCA2: Changed phenotypes to: SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | SMARCA2 | Achchuthan Shanmugasundram edited their review of gene: SMARCA2: Added comment: The DDG2P confidence category for the disease SMARCA2-related Nicolaides-Baraitser syndrome , OMIM:601358 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 31813144;34521483;34296532;31288860;25169058;27665729;22366787;22426308;32694869;35811451;32657847;22822383;28948053).; Changed publications to: 28948053, 32657847, 31813144, 25169058, 22426308, 34521483, 22366787, 34296532, 32694869, 31288860, 27665729, 22822383, 35811451; Changed phenotypes to: NICOLAIDES-BARAITSER SYNDROME, OMIM:601358, SMARCA2-related Nicolaides-Baraitser syndrome , OMIM:601358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCA2 | Achchuthan Shanmugasundram reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22366787, 22426308, 32694869; Phenotypes: NICOLAIDES-BARAITSER SYNDROME, OMIM:601358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMARCA2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SMARCA2 was changed from Other - please provide details in the comments to Other Publications for gene: SMARCA2 were updated from 19606471; 22426308; 22366787 to 32694869; 19606471; 22366787; 22426308 |
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| DDG2P v0.2 | SMARCA2 | Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMARCA2 |
Rebecca Foulger Added phenotypes NICOLAIDES-BARAITSER SYNDROME 601358 for gene: SMARCA2 Publications for gene SMARCA2 were changed from 22426308 to 19606471; 22426308; 22366787 |
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| DDG2P v0.1 | SMARCA2 |
Rebecca Foulger gene: SMARCA2 was added gene: SMARCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCA2 were set to 22426308 Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS 135900 Mode of pathogenicity for gene: SMARCA2 was set to Other - please provide details in the comments |
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