Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.17 GABRA1 Louise Daugherty Mode of inheritance for gene GABRA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 GABRA1 Louise Daugherty reviewed gene: GABRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 GABRA1 Louise Daugherty Publications for gene GABRA1 were updated from to 30847515
Severe Paediatric Disorders v0.10 GABRA1 Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Epileptic encephalopathy, early infantile, 19, 615744 for gene: GABRA1
Severe Paediatric Disorders v0.9 GABRA1 Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Epileptic encephalopathy, early infantile, 19, 615744 for gene: GABRA1
Severe Paediatric Disorders v0.9 GABRA1 Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Epileptic encephalopathy, early infantile, 19, 615744 for gene: GABRA1
Severe Paediatric Disorders v0.8 GABRA1 Louise Daugherty Added phenotypes {Epilepsy, childhood absence, susceptibility to, 4}, 611136; Epileptic encephalopathy, early infantile, 19, 615744; {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 for gene: GABRA1
Severe Paediatric Disorders v0.7 GABRA1 Louise Daugherty Source Next Generation Children Project was added to GABRA1.
Severe Paediatric Disorders v0.5 GABRA1 Louise Daugherty Source Expert Review Green was added to GABRA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 GABRA1 Louise Daugherty gene: GABRA1 was added
gene: GABRA1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GABRA1 was set to