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| DDG2P v3.12 | SCN2A | Achchuthan Shanmugasundram reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25457084, 26291284, 31966371, 24579881, 31439038, 28489313, 31204721, 28379373, 19783390, 30062040, 16417554, 24814476, 28254201, 15028761, 26311622, 17386050, 23550958, 22591750, 19786696, 23988467, 24710820, 24659627, 30144217, 30203812, 25459969, 29635106, 23935176, 28709814, 23827426, 27781028, 25772804, 29625812; Phenotypes: NONSPECIFIC SEVERE ID, INFANTILE EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCN2A | Achchuthan Shanmugasundram Publications for gene: SCN2A were updated from 26291284; 23935176 to 25457084; 26291284; 31966371; 24579881; 31439038; 31204721; 28489313; 28379373; 19783390; 30062040; 16417554; 24814476; 28254201; 15028761; 26311622; 17386050; 23550958; 22591750; 19786696; 23988467; 24710820; 24659627; 30144217; 30203812; 25459969; 29635106; 23935176; 28709814; 23827426; 27781028; 25772804; 29625812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SCN2A | Rebecca Foulger reviewed gene: SCN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SCN2A |
Rebecca Foulger Added phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY for gene: SCN2A Publications for gene SCN2A were changed from to 26291284; 23935176 |
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| DDG2P v0.1 | SCN2A | Rebecca Foulger Added phenotypes BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968 for gene: SCN2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SCN2A |
Rebecca Foulger gene: SCN2A was added gene: SCN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID |
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