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| DDG2P v3.12 | STXBP1 | Achchuthan Shanmugasundram reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469812, 29929108, 27069701, 25714420, 30654231, 21770924, 31387522, 24315539, 29544889, 29264391, 26212315, 32105008, 26384463, 19557857, 24170257, 29718889, 24095819, 27184330, 28944233, 29896790, 20876469, 26865513, 24623842, 31344879, 21204804, 20887364, 22596016, 25418441, 23533165, 24189369, 26514728, 23763664, 21762454, 23409955, 21364700, 21062273, 23531706, 25631041; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4, OMIM:612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | STXBP1 | Achchuthan Shanmugasundram Publications for gene: STXBP1 were updated from 18469812; 19557857 to 18469812; 29929108; 27069701; 25714420; 30654231; 21770924; 31387522; 24315539; 29544889; 29264391; 26212315; 32105008; 26384463; 19557857; 24170257; 29718889; 24095819; 27184330; 28944233; 29896790; 20876469; 26865513; 24623842; 31344879; 21204804; 20887364; 22596016; 25418441; 23533165; 24189369; 26514728; 23763664; 21762454; 23409955; 21364700; 21062273; 23531706; 25631041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STXBP1 | Rebecca Foulger reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | STXBP1 |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 612164 for gene: STXBP1 Publications for gene STXBP1 were changed from to 18469812; 19557857 |
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| DDG2P v0.1 | STXBP1 |
Rebecca Foulger gene: STXBP1 was added gene: STXBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER |
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