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| DDG2P v3.12 | CACNA1A | Achchuthan Shanmugasundram reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28927557, 27476654, 23934111, 29366381, 28742085; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1A. Mode of pathogenicity for gene CACNA1A was changed from Other - please provide details in the comments to Other Publications for gene: CACNA1A were updated from 27476654; 28927557; 28742085; 23934111; 29366381 to 28927557; 27476654; 23934111; 29366381; 28742085 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | CACNA1A | Rebecca Foulger reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CACNA1A |
Rebecca Foulger gene: CACNA1A was added gene: CACNA1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1A were set to 27476654; 28927557; 28742085; 23934111; 29366381 Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: CACNA1A was set to Other - please provide details in the comments |
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