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This Panel is marked as Retired

Research panel - Severe Paediatric Disorders
Gene: TBX1

TBX1 (T-box 1)
EnsemblGeneIds (GRCh38): ENSG00000184058
EnsemblGeneIds (GRCh37): ENSG00000184058
OMIM: 602054, Gene2Phenotype
TBX1 is in 10 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

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

Clinvar variants

Variants in TBX1

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TBX1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Conotruncal anomaly face syndrome, 217095; DiGeorge syndrome, 188400; Velocardiofacial syndrome, 192430; Tetralogy of Fallot, 187500 for gene: TBX1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TBX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TBX1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TBX1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TBX1 was added gene: TBX1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TBX1 was set to