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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)
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