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| DDG2P v3.12 | SYNGAP1 | Achchuthan Shanmugasundram reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30685520, 26110312, 23141534, 26079862, 23161826, 30572772, 21237447, 19196676, 23033978, 28721930, 30800045, 28576131, 26989088, 31395010, 30556619, 23708187, 29381230; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 5, OMIM:612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SYNGAP1 | Achchuthan Shanmugasundram Publications for gene: SYNGAP1 were updated from 23033978; 19196676; 23161826; 21237447; 23141534 to 30685520; 26110312; 23141534; 26079862; 23161826; 30572772; 21237447; 19196676; 23033978; 28721930; 30800045; 28576131; 26989088; 31395010; 30556619; 23708187; 29381230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SYNGAP1 | Rebecca Foulger reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SYNGAP1 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 612621 for gene: SYNGAP1 Publications for gene SYNGAP1 were changed from 23708187 to 23033978; 19196676; 23161826; 21237447; 23141534 |
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| DDG2P v0.1 | SYNGAP1 |
Rebecca Foulger gene: SYNGAP1 was added gene: SYNGAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SYNGAP1 were set to 23708187 Phenotypes for gene: SYNGAP1 were set to EPILEPTIC ENCEPHALOPATHY |
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