TOF TBX1

Sparse
Disease ID
TOF
Gene ID
TBX1
Clinical Links
GARD
2245
GeneReviews
NBK535148
MalaCard
TTR001
MedGen
21498
Mondo
0008542
OMIM
187500
Orphanet
3303
Bioinformatical Links
gnomAD
TBX1
STRipy
TBX1
TR-Atlas
TR163862
WebSTR hg38
4900984
WebSTR hg19
STR_889797

Disease

Name
Tetralogy of Fallot
Inheritance
Autosomal dominant
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 OnsetYears0  0
Age of Onset Details
0

Locus

hg19
chr22:19754285-19754330
hg38
chr22:19766762-19766807
t2t
chr22:20143615-20143660
Details
Found in one Turkish individual with Tetralogy of Fallot who had 25 repeats rather than 152 .
Mechanism
LoF/GoF
Polyalanine expansion, leading to cytoplasmic aggregation3,4 .
Year
20104
Location in Gene
Exon 9
Gene Strand

Alleles

Ref. Motif
GCN
Pathogenic (ref.)
GCN
Pathogenic (gene)
CNG
BenignPathogenicUnits15  1525  25

References

Direct supporting references for info on this page.

1
Ontology Lookup Service (OLS)
mondo:0008542
2
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:NBK535148
3
omim:187500
4
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:19948535

Additional 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)

Mammalian 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:24797903
Timed 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:16141220
Patient 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