Epileptic encephalopathy
Gene: TBC1D24EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 6 panels
4 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
- Guven & Tolun (2013) J Med Genet 50: 199_202
- Corbett et al (2010) Am J Hum Genet 87: 371_375
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
- Guven & Tolun (2013) J Med Genet 50: 199_202
- Corbett et al (2010) Am J Hum Genet 87: 371_375
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
- Guven & Tolun (2013) J Med Genet 50: 199_202
- Corbett et al (2010) Am J Hum Genet 87: 371_375
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
- Guven & Tolun (2013) J Med Genet 50: 199 202
- Corbett et al (2010) Am J Hum Genet 87: 371 375
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- OMIM
- 613577
- Clinvar variants
- Variants in TBC1D24
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
gel status update
GEL ()The Gel status was updated for this whole panel
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)TBC1D24 was added to Epileptic encephalopathypanel. Sources: Expert Review Red
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TBC1D24 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TBC1D24 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TBC1D24 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TBC1D24 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)TBC1D24 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert