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Severe Paediatric Disorders

Gene: TBC1D24

Green List (high evidence)

TBC1D24 (TBC1 domain family member 24)
EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TBC1D24; Recommended initial gene rating: Green List (high evidence); Phenotypes: DOORS syndrome, 220500 (3) | Deafness , autosomal recessive 86, 614617 (3) | Deafness, autosomal dominant 65, 616044 (3) | Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105 (3) | Epileptic encephalopathy, early infantile, 16, 615338 (3) | Myoclonic epilepsy, infantile, familial, 605021 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal dominant | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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
OMIM
613577
Clinvar variants
Variants in TBC1D24
Penetrance
None
Publications
Panels with this gene