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| DDG2P v6.17 | SCN1B | Achchuthan Shanmugasundram edited their review of gene: SCN1B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SCN1B-related generalized epilepsy with febrile seizures plus or temporal lobe epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 12011299, 14504340, 17020904, 19522081, 21040232, 27277800, 29992740, 30660056, 36291443, 9697698). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01480. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN1B-related developmental and epileptic encephalopathy are definitive, biallelic_autosomal and undetermined non-loss-of-function (PMIDs: 19710327, 23148524, 28218389, 31465153, 31709768, 33901312). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03722.; Changed publications to: 12011299, 36291443, 21040232, 33901312, 31465153, 23148524, 19522081, 17020904, 9697698, 31709768, 28218389, 14504340, 29992740, 30660056, 18464934, 27277800, 19710327; Changed phenotypes to: SCN1B-related developmental and epileptic encephalopathy, MONDO:0033361, SCN1B-related generalized epilepsy with febrile seizures plus or temporal lobe epilepsy, MONDO:0011416, BRUGADA SYNDROME 5, OMIM:612838, OMIM:604233.0, OMIM:617350.0; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | SCN1B | Achchuthan Shanmugasundram Mode of inheritance for gene SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN1B | Achchuthan Shanmugasundram reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17020904, 9697698, 12011299, 18464934; Phenotypes: BRUGADA SYNDROME 5, OMIM:612838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCN1B | Achchuthan Shanmugasundram Publications for gene: SCN1B were updated from 18464934 to 17020904; 9697698; 12011299; 18464934 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SCN1B | Rebecca Foulger reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SCN1B |
Rebecca Foulger Added phenotypes BRUGADA SYNDROME 5 612838 for gene: SCN1B Publications for gene SCN1B were changed from 9697698 to 18464934 |
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| DDG2P v0.1 | SCN1B |
Rebecca Foulger gene: SCN1B was added gene: SCN1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN1B were set to 9697698 Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233 |
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