Activity
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6 actions
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| DDG2P v6.380 | THOC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: THOC2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | THOC2 | Achchuthan Shanmugasundram edited their review of gene: THOC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for THOC2-related intellectual developmental disorder are strong, monoallelic_X_hemizygous and undetermined (PMID:26166480). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01676.; Changed phenotypes to: MONDO:0010496, OMIM:300957.0, THOC2-related intellectual developmental disorder, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12, OMIM:300957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | THOC2 | Achchuthan Shanmugasundram reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26166480; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12, OMIM:300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | THOC2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to THOC2. Mode of pathogenicity for gene THOC2 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 | THOC2 | Rebecca Foulger reviewed gene: THOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | THOC2 |
Rebecca Foulger gene: THOC2 was added gene: THOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: THOC2 were set to 26166480 Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 300957 Mode of pathogenicity for gene: THOC2 was set to Other - please provide details in the comments |
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