Activity
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6 actions
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| DDG2P v6.86 | CACNA1H | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CACNA1H was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CACNA1H | Achchuthan Shanmugasundram edited their review of gene: CACNA1H: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CACNA1H-related epilepsy, childhood absence, susceptibility to are limited, monoallelic_autosomal and undetermined (PMIDs: 12891677, 17696120). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01454.; Changed publications to: 12891677, 17696120; Changed phenotypes to: OMIM:611942.0, MONDO:0012763, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6, OMIM:611942, CACNA1H-related epilepsy, childhood absence, susceptibility to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1H | Achchuthan Shanmugasundram reviewed gene: CACNA1H: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6, OMIM:611942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1H | Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1H was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CACNA1H | Rebecca Foulger reviewed gene: CACNA1H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CACNA1H |
Rebecca Foulger gene: CACNA1H was added gene: CACNA1H was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1H were set to EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942 Mode of pathogenicity for gene: CACNA1H was set to Other - please provide details in the comments |
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