Activity
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| DDG2P v6.83 | C12orf57 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: C12orf57 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | C12orf57 | Achchuthan Shanmugasundram edited their review of gene: C12orf57: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for C12orf57-related Temtamy syndrome; coloboma, hypoplastic corpus callosum, and intellectual disability are strong, biallelic_autosomal and undetermined (PMIDs: 23453666, 24798461). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00263.; Changed publications to: 23453666, 24798461; Changed phenotypes to: COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY, OMIM:218340, coloboma, hypoplastic corpus callosum, and intellectual disability, TEMTAMY SYNDROME, MONDO:0009033, C12orf57-related Temtamy syndrome, OMIM:218340.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C12orf57 | Achchuthan Shanmugasundram reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24798461, 23453666; Phenotypes: TEMTAMY SYNDROME, COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY, OMIM:218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | C12orf57 |
Achchuthan Shanmugasundram Source Expert Review Green was added to C12orf57. Mode of pathogenicity for gene C12orf57 was changed from Other - please provide details in the comments to Other Publications for gene: C12orf57 were updated from 23453666 to 24798461; 23453666 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | C12orf57 | Rebecca Foulger reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | C12orf57 |
Rebecca Foulger gene: C12orf57 was added gene: C12orf57 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf57 were set to 23453666 Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340; TEMTAMY SYNDROME Mode of pathogenicity for gene: C12orf57 was set to Other - please provide details in the comments |
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