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Severe Paediatric Disorders

Gene: TBX1

Green List (high evidence)

TBX1 (T-box 1)
EnsemblGeneIds (GRCh38): ENSG00000184058
EnsemblGeneIds (GRCh37): ENSG00000184058
OMIM: 602054, Gene2Phenotype
TBX1 is in 11 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: TBX1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Conotruncal anomaly face syndrome, 217095 (3) | DiGeorge syndrome, 188400 (3) | Tetralogy of Fallot, 187500 (3) | Velocardiofacial syndrome, 192430 (3); Mode of inheritance: ND | Autosomal dominant | Autosomal dominant | Autosomal dominant
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
  • DiGeorge syndrome, 188400
  • Tetralogy of Fallot, 187500
  • Conotruncal anomaly face syndrome, 217095
  • Velocardiofacial syndrome, 192430
OMIM
602054
Clinvar variants
Variants in TBX1
Penetrance
None
Publications
Panels with this gene

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