Epileptic encephalopathy
Gene: TBC1D24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
Variants in this GENE are reported as part of current diagnostic practice
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
TBC1D24 was added to Epileptic encephalopathypanel. Sources: Expert Review Red
Model of inheritance for gene TBC1D24 was changed to BIALLELIC, autosomal or pseudoautosomal
TBC1D24 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene TBC1D24 was changed to BIALLELIC, autosomal or pseudoautosomal
TBC1D24 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
TBC1D24 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert