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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 |
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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) |
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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 |