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Severe Paediatric Disorders v0.12 TBC1D24 Louise Daugherty reviewed gene: TBC1D24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 TBC1D24 Louise Daugherty Publications for gene TBC1D24 were updated from to 30847515
Severe Paediatric Disorders v0.10 TBC1D24 Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
Severe Paediatric Disorders v0.9 TBC1D24 Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
Severe Paediatric Disorders v0.9 TBC1D24 Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
Severe Paediatric Disorders v0.8 TBC1D24 Louise Daugherty Added phenotypes Deafness , autosomal recessive 86, 614617; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; DOORS syndrome, 220500; Epileptic encephalopathy, early infantile, 16, 615338; Myoclonic epilepsy, infantile, familial, 605021; Deafness, autosomal dominant 65, 616044 for gene: TBC1D24
Severe Paediatric Disorders v0.8 TBC1D24 Louise Daugherty Mode of inheritance for gene TBC1D24 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
Severe Paediatric Disorders v0.7 TBC1D24 Louise Daugherty Source Next Generation Children Project was added to TBC1D24.
Severe Paediatric Disorders v0.5 TBC1D24 Louise Daugherty Source Expert Review Green was added to TBC1D24.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 TBC1D24 Louise Daugherty gene: TBC1D24 was added
gene: TBC1D24 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TBC1D24 was set to