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Epileptic encephalopathy

Gene: TBC1D24

Red List (low evidence)

TBC1D24 (TBC1 domain family member 24)
EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 5 panels

4 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

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)

Red List (low evidence)

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)

Red List (low evidence)

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)

Red List (low evidence)

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

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

TBC1D24 was added to Epileptic encephalopathypanel. Sources: Expert Review Red

1 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TBC1D24 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TBC1D24 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TBC1D24 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TBC1D24 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TBC1D24 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert