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| DDG2P v3.12 | CACNA1C | Achchuthan Shanmugasundram reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15454078; Phenotypes: TIMOTHY SYNDROME, OMIM:601005; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1C | Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1C was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.75 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME 601005 to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; CACNA1C-related disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CACNA1C | Rebecca Foulger reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CACNA1C |
Rebecca Foulger gene: CACNA1C was added gene: CACNA1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1C were set to 15454078 Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME 601005 Mode of pathogenicity for gene: CACNA1C was set to Other - please provide details in the comments |
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