Activity
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6 actions
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| DDG2P v6.396 | TTI2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TTI2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TTI2 | Achchuthan Shanmugasundram edited their review of gene: TTI2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TTI2-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01468.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:615541.0, TTI2-related intellectual developmental disorder, MONDO:0014238 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTI2 | Achchuthan Shanmugasundram reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TTI2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TTI2. Mode of pathogenicity for gene TTI2 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 | TTI2 | Rebecca Foulger reviewed gene: TTI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TTI2 |
Rebecca Foulger gene: TTI2 was added gene: TTI2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTI2 were set to 21937992 Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TTI2 was set to Other - please provide details in the comments |
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