Activity
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| DDG2P v3.12 | ATP6V1B2 | Achchuthan Shanmugasundram reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25915598; Phenotypes: ZIMMERMANN-LABAND SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATP6V1B2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1B2. Mode of pathogenicity for gene ATP6V1B2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | ATP6V1B2 | Rebecca Foulger reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ATP6V1B2 |
Rebecca Foulger gene: ATP6V1B2 was added gene: ATP6V1B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP6V1B2 were set to 25915598 Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME Mode of pathogenicity for gene: ATP6V1B2 was set to Other - please provide details in the comments |
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