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| DDG2P v3.12 | CACNA1D | Achchuthan Shanmugasundram reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131953, 23913001; Phenotypes: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OMIM:615474, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, OMIM:614896; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1D |
Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1D. Publications for gene: CACNA1D were updated from 23913001 to 21131953; 23913001 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | CACNA1D | Rebecca Foulger reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CACNA1D |
Rebecca Foulger Added phenotypes PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474 for gene: CACNA1D Publications for gene CACNA1D were changed from 21131953 to 23913001 |
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| DDG2P v0.1 | CACNA1D |
Rebecca Foulger gene: CACNA1D was added gene: CACNA1D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CACNA1D were set to 21131953 Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896 |
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