Locus TOF TBX1
Disease ID
TOF
Gene ID
TBX1
Updated
Jun 15, 2026
v2.22.0
v2.22.0
Other gene loci
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Clinical Links
Bioinformatical Links
Disease
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Name Tetralogy of Fallot
Inheritance
Description Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy1 .
Prevalence Found in one Turkish individual2 .
Age of Onset 0
HPO Terms
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Association
Mendelian
Locus
Details Found in one Turkish individual with Tetralogy of Fallot who had 25 repeats rather than 152 .
Detection
Alleles
Ref. Motif Reference motif, reference orientation
GCN
Ranges
Benign (ref.) Benign motif, reference orientation
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Benign (gene) Benign motif, gene orientation
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Pathogenic (ref.) Pathogenic motif, reference orientation
GCN
Pathogenic (gene) Pathogenic motif, gene orientation
CNG
Unknown (ref.) Unknown motif, reference orientation
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Unknown (gene) Unknown motif, gene orientation
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Interruption (ref.) Interruption motif, reference orientation
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Interruption (gene) Interruption motif, gene orientation
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gnomAD
Pathogenic genotype frequency data is not displayed for this locus because a substantial number of large alleles failed manual review by the gnomAD team.
References
Direct supporting references for info on this page.
1
Ontology Lookup Service (OLS)
mondo:00085422
Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions
Stephanie E.,Wallace, Lora JH,Bean
GeneReviews® [Internet] · 2022-10-20
genereviews:NBK5351484
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
Ralf,Rauch, Michael,Hofbeck, Christiane,Zweier, Andreas,Koch, Stefan,Zink, Udo,Trautmann, Juliane,Hoyer, Renate,Kaulitz, Helmut,Singer, Anita,Rauch
Journal of medical genetics · 2009-11-30
pmid:19948535Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)
Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9
Pratibha,Bhalla, Neha,Ahuja, Ashwani,Kumar, Chao,Xing, Angela,Moses, Ashutosh,Shukla, Katelyn,Boetel, Bret M,Evers, John M,Shelton, Maria Teresa,de la Morena, Christian A,Wysocki, Ondine B,Cleaver, Nicolai S C,van Oers
Journal of human immunity · 2025-08-12
pmid:41607489Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat.
Raquel,Castellanos, Qing,Xie, Deyou,Zheng, Ales,Cvekl, Bernice E,Morrow
PloS one · 2014-05-05
pmid:24797903Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion.
Huansheng,Xu, Fabiana,Cerrato, Antonio,Baldini
Development (Cambridge, England) · 2005-09-01
pmid:16141220Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
L,McQuade, J,Christodoulou, M,Budarf, R,Sachdev, M,Wilson, B,Emanuel, A,Colley
American journal of medical genetics · 1999-09-03
pmid:10440825