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| DDG2P v3.12 | ACTA2 | Achchuthan Shanmugasundram reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35567597; Phenotypes: MOYAMOYA DISEASE 5, OMIM:614042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACTA2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTA2 was changed from Other - please provide details in the comments to Other Publications for gene: ACTA2 were updated from to 35567597 |
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| DDG2P v1.131 | ACTA2 | Rebecca Foulger commented on gene: ACTA2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | ACTA2 |
Rebecca Foulger Source Expert Review Green was added to ACTA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | ACTA2 | Rebecca Foulger commented on gene: ACTA2: 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 | ACTA2 | Rebecca Foulger commented on gene: ACTA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for MOYAMOYA DISEASE 5; AORTIC ANEURYSM, FAMILIAL THORACIC 6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | ACTA2 |
Rebecca Foulger Source Expert Review Amber was added to ACTA2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | ACTA2 | Rebecca Foulger reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACTA2 | Rebecca Foulger Added phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788 for gene: ACTA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACTA2 |
Rebecca Foulger gene: ACTA2 was added gene: ACTA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTA2 were set to MOYAMOYA DISEASE 5 614042 Mode of pathogenicity for gene: ACTA2 was set to Other - please provide details in the comments |
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