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| DDG2P v3.12 | MYO7A | Achchuthan Shanmugasundram reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7870171, 9171833; Phenotypes: DEAFNESS AUTOSOMAL RECESSIVE TYPE 2, OMIM:600060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYO7A | Achchuthan Shanmugasundram Publications for gene: MYO7A were updated from 7870171 to 7870171; 9171833 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | MYO7A | Rebecca Foulger commented on gene: MYO7A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | MYO7A |
Rebecca Foulger Source Expert Review Green was added to MYO7A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | MYO7A | Rebecca Foulger commented on gene: MYO7A: 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 | MYO7A | Rebecca Foulger commented on gene: MYO7A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | MYO7A |
Rebecca Foulger Source Expert Review Amber was added to MYO7A. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | MYO7A | Rebecca Foulger reviewed gene: MYO7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYO7A |
Rebecca Foulger Added phenotypes USHER SYNDROME TYPE 1B 276900 for gene: MYO7A Publications for gene MYO7A were changed from 9171833 to 7870171 |
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| DDG2P v0.1 | MYO7A |
Rebecca Foulger gene: MYO7A was added gene: MYO7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO7A were set to 9171833 Phenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 600060 |
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