Activity
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7 actions
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| DDG2P v6.109 | CLIC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLIC2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CLIC2 | Achchuthan Shanmugasundram edited their review of gene: CLIC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLIC2-related intellectual developmental disorder are limited, monoallelic_X_hemizygous and undetermined (PMID:22814392). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01667.; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER, X-linked, syndromic 32, OMIM:300886, CLIC2-related intellectual developmental disorder, OMIM:300886.0, MONDO:0010473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLIC2 | Achchuthan Shanmugasundram reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: Other; Publications: 22814392; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-linked, syndromic 32, OMIM:300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLIC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CLIC2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.108 | CLIC2 | Rebecca Foulger Phenotypes for gene: CLIC2 were changed from Mental retardation, X-linked, syndromic 32 to Mental retardation, X-linked, syndromic 32 300886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLIC2 | Rebecca Foulger reviewed gene: CLIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CLIC2 |
Rebecca Foulger gene: CLIC2 was added gene: CLIC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLIC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CLIC2 were set to 22814392 Phenotypes for gene: CLIC2 were set to Mental retardation, X-linked, syndromic 32 Mode of pathogenicity for gene: CLIC2 was set to Other - please provide details in the comments |
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