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| DDG2P v3.12 | BRCA1 | Achchuthan Shanmugasundram reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34680915, 12624153; Phenotypes: BRCA1-related Fanconi anaemia, OMIM:227650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BRCA1 | Achchuthan Shanmugasundram Publications for gene: BRCA1 were updated from 12624153 to 34680915; 12624153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.125 | BRCA1 | Rebecca Foulger commented on gene: BRCA1: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.125 | BRCA1 | Rebecca Foulger Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY 616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | BRCA1 |
Rebecca Foulger Source Expert Review Green was added to BRCA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | BRCA1 | Rebecca Foulger commented on gene: BRCA1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | BRCA1 | Rebecca Foulger commented on gene: BRCA1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for INTELLECTUAL DISABILITY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | BRCA1 |
Rebecca Foulger Source Expert Review Amber was added to BRCA1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | BRCA1 | Rebecca Foulger reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BRCA1 |
Rebecca Foulger gene: BRCA1 was added gene: BRCA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA1 were set to 12624153 Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY |
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