Activity
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6 actions
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| DDG2P v6.392 | TRRAP | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRRAP was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TRRAP | Achchuthan Shanmugasundram edited their review of gene: TRRAP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRRAP-related autism and syndromic intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 30424743, 30827496). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02646.; Changed publications to: 30424743, 30827496; Changed phenotypes to: OMIM:618454.0, MONDO:0032760, Autism and Syndromic Intellectual Disability, TRRAP-related autism and syndromic intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRRAP | Achchuthan Shanmugasundram reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30827496; Phenotypes: Autism and Syndromic Intellectual Disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRRAP |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRRAP. Mode of pathogenicity for gene TRRAP 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 | TRRAP | Rebecca Foulger reviewed gene: TRRAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | TRRAP |
Rebecca Foulger gene: TRRAP was added gene: TRRAP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRRAP were set to 30827496 Phenotypes for gene: TRRAP were set to Autism and Syndromic Intellectual Disability Mode of pathogenicity for gene: TRRAP was set to Other - please provide details in the comments |
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