Activity
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| DDG2P v6.222 | KCNT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNT1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KCNT1 | Achchuthan Shanmugasundram edited their review of gene: KCNT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNT1-related malignant migrating partial seizures of infancy are definitive, monoallelic_autosomal and gain of function (PMIDs: 23086396, 23086397, 23278465, 24029078, 24120652, 25120433, 26122718, 26140313, 26740507, 26748457, 27081515, 28081520, 28366665, 28987752, 29037447, 29196578, 29291456, 29870100, 30112700, 30525185, 30782581, 30804880, 30847371, 30903923, 31388363, 31560846, 31872048, 31926846, 32883383, 33650128, 34147500, 34567798, 36279596, 36297665, 36746065). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00887. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNT1-related epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 23086396, 23086397). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00927.; Changed publications to: 30525185, 30782581, 30847371, 28987752, 34567798, 31560846, 23278465, 26122718, 24029078, 23086397, 26740507, 29870100, 31926846, 36746065, 26140313, 30903923, 36279596, 34147500, 28366665, 27081515, 28081520, 29037447, 30804880, 23086396, 36297665, 33650128, 25120433, 29291456, 24120652, 29196578, 32883383, 30112700, 31872048, 26748457, 31388363; Changed phenotypes to: OMIM:614959.0, MONDO:0017385, KCNT1-related epilepsy, MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959, MONDO:0013989, KCNT1-related malignant migrating partial seizures of infancy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNT1 | Achchuthan Shanmugasundram reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23086397, 23086396; Phenotypes: MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNT1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNT1 | Rebecca Foulger reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNT1 |
Rebecca Foulger Added phenotypes SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959 for gene: KCNT1 Publications for gene KCNT1 were changed from 23086397 to 23086397; 23086396 |
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| DDG2P v0.1 | KCNT1 |
Rebecca Foulger gene: KCNT1 was added gene: KCNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNT1 were set to 23086397 Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Mode of pathogenicity for gene: KCNT1 was set to Other - please provide details in the comments |
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