Activity
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6 actions
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| DDG2P v6.70 | ATP6V1E1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6V1E1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ATP6V1E1 | Achchuthan Shanmugasundram edited their review of gene: ATP6V1E1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V1E1-related cutis laxa are strong, biallelic_autosomal and undetermined (PMID:28065471). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02591.; Changed phenotypes to: OMIM:617402.0, ATP6V1E1-related cutis laxa, MONDO:0027462, Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1E1 | Achchuthan Shanmugasundram reviewed gene: ATP6V1E1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28065471; Phenotypes: Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATP6V1E1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1E1. Mode of pathogenicity for gene ATP6V1E1 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 v1.38 | ATP6V1E1 | Rebecca Foulger reviewed gene: ATP6V1E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | ATP6V1E1 |
Rebecca Foulger gene: ATP6V1E1 was added gene: ATP6V1E1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1E1 were set to 28065471 Phenotypes for gene: ATP6V1E1 were set to Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa Mode of pathogenicity for gene: ATP6V1E1 was set to Other - please provide details in the comments |
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