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| 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 v3.12 | CA2 | Achchuthan Shanmugasundram reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8127074, 12566520, 5041390, 1301935; Phenotypes: OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3, OMIM:259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRCA2 | Achchuthan Shanmugasundram reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15070707, 12065746, 14670928; Phenotypes: FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1, OMIM:605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.11 | CA2 | Achchuthan Shanmugasundram Publications for gene: CA2 were updated from 12566520; 8127074; 5041390; 1301935 to 5041390; 12566520; 8127074; 1301935 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BRCA2 | Achchuthan Shanmugasundram Publications for gene: BRCA2 were updated from to 14670928; 15070707; 12065746 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | BRCA2 | Rebecca Foulger commented on gene: BRCA2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | BRCA2 |
Rebecca Foulger Source Expert Review Green was added to BRCA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | BRCA2 | Rebecca Foulger commented on gene: BRCA2: 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 | BRCA2 | Rebecca Foulger commented on gene: BRCA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | BRCA2 |
Rebecca Foulger Source Expert Review Amber was added to BRCA2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | SMARCA2 | Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CA2 | Rebecca Foulger reviewed gene: CA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BRCA2 | Rebecca Foulger reviewed gene: BRCA2: 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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| DDG2P v0.1 | CA2 |
Rebecca Foulger gene: CA2 was added gene: CA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA2 were set to 12566520; 8127074; 5041390; 1301935 Phenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730 |
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| DDG2P v0.1 | BRCA2 |
Rebecca Foulger gene: BRCA2 was added gene: BRCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724 |
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