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Genetic epilepsy syndromes

Gene: TBC1D24

Green List (high evidence)

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

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR early infantile epileptic encephaalopathy and infantile myoclonic epilepsy (Also see AD and AR deafness and AR DOORS syndrome). DOORS is a deafness and seizure syndrome.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness , 614617; Deafness, 616044; DOORS syndrome 220500; Epileptic encephalopathy, early infantile, 615338; Myoclonic epilepsy, infantile, familial 605021

Publications

Sarah Leigh (Genomics England Curator)

Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for DOORS syndrome 220500, Epileptic encephalopathy, early infantile, 16 615338 and Myoclonic epilepsy, infantile, familial 605021. At least 9 variants reported
Created: 4 Apr 2018, 4:03 p.m.

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

Richard Scott (Genomics England Curator)

Comment on list classification: Not this phenotype - syndromic
Created: 8 May 2016, 7:01 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
Phenotypes
  • DOORS syndrome 220500
  • Epileptic encephalopathy, early infantile, 16 615338
  • Myoclonic epilepsy, infantile, familial 605021
OMIM
613577
Clinvar variants
Variants in TBC1D24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TBC1D24.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TBC1D24.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Richard Scott: Comment on list classification

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to TBC1D24. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TBC1D24. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TBC1D24 were set to DOORS syndrome 220500; Epileptic encephalopathy, early infantile, 16 615338; Myoclonic epilepsy, infantile, familial 605021

4 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TBC1D24 were set to 20797691; 23343562; 24291220; 10741954; 20727515

4 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TBC1D24 were set to 20797691; 23343562

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TBC1D24 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert,UKGTN,Radboud University Medical Center, Nijmegen

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TBC1D24 was created by Sarah Leigh