Activity
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6 actions
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| DDG2P v6.91 | CCDC22 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CCDC22 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CCDC22 | Achchuthan Shanmugasundram edited their review of gene: CCDC22: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CCDC22-related syndromic intellectual disability are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 24916641, 36073196). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01275.; Changed publications to: 36073196, 24916641; Changed phenotypes to: OMIM:300963.0, SYNDROMIC X-LINKED INTELLECTUAL DISABILITY, CCDC22-related syndromic intellectual disability, MONDO:0010499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC22 | Achchuthan Shanmugasundram reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC X-LINKED INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CCDC22 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC22. Mode of pathogenicity for gene CCDC22 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 | CCDC22 | Rebecca Foulger reviewed gene: CCDC22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CCDC22 |
Rebecca Foulger gene: CCDC22 was added gene: CCDC22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY Mode of pathogenicity for gene: CCDC22 was set to Other - please provide details in the comments |
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