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DDG2P v3.12 | KCNQ5 | Achchuthan Shanmugasundram reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28669405; Phenotypes: Intellectual Disability with or without Epileptic Encephalopathy, Intellectual Disability with or without Epileptic Encephalopathy, activating; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | KCNQ5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNQ5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v0.2 | KCNQ5 | Rebecca Foulger reviewed gene: KCNQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | KCNQ5 | Rebecca Foulger Added phenotypes Intellectual Disability with or without Epileptic Encephalopathy for gene: KCNQ5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | KCNQ5 |
Rebecca Foulger gene: KCNQ5 was added gene: KCNQ5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ5 were set to 28669405 Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy |