TBX1 Chromosome 22

T-box transcription factor 1
79 variants 79 Health Risk

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What This Gene Does
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000184058
Associated Conditions (9)
DiGeorge syndrome
Cardiovascular phenotype
Tetralogy of Fallot
Conotruncal heart malformations
Velocardiofacial syndrome
TBX1-related disorder
Inborn genetic diseases
Conotruncal anomaly face syndrome
KBG syndrome
Key Variants
RS1009463279
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
Health Risk
RS1028072654
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
Health Risk
RS1201666534
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
Health Risk
RS1219849128
Conflicting classifications of pathogenicity
DiGeorge syndrome, DiGeorge syndrome
Health Risk
RS1445910672
Conflicting classifications of pathogenicity
Tetralogy of Fallot, DiGeorge syndrome, Tetralogy of Fallot
Health Risk
RS144848597
Conflicting classifications of pathogenicity
DiGeorge syndrome, Conotruncal heart malformations, Tetralogy of Fallot
Health Risk
RS1936824289
Conflicting classifications of pathogenicity
DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome
Health Risk
RS201993443
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
Health Risk
RS2145827836
Conflicting classifications of pathogenicity
DiGeorge syndrome, Tetralogy of Fallot, Velocardiofacial syndrome
Health Risk
RS2145836461
Conflicting classifications of pathogenicity
DiGeorge syndrome, DiGeorge syndrome
Health Risk
RS2145839048
Conflicting classifications of pathogenicity
DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome
Health Risk
RS369050575
Conflicting classifications of pathogenicity
DiGeorge syndrome, Cardiovascular phenotype, TBX1-related disorder
Health Risk
All Variants (79)
RSID Category Clinical Significance Conditions
RS1009463279 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS1028072654 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS1201666534 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS1219849128 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS1445910672 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, DiGeorge syndrome, Tetralogy of Fallot
RS144848597 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Conotruncal heart malformations, Tetralogy of Fallot
RS1936824289 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome
RS201993443 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS2145827836 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Tetralogy of Fallot, Velocardiofacial syndrome
RS2145836461 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS2145839048 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome
RS369050575 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, TBX1-related disorder
RS375380772 Health Risk Conflicting classifications of pathogenicity TBX1-related disorder, Cardiovascular phenotype, TBX1-related disorder
RS555522870 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Velocardiofacial syndrome, Tetralogy of Fallot
RS72646973 Health Risk Conflicting classifications of pathogenicity —
RS745858331 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS746335599 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, DiGeorge syndrome, Tetralogy of Fallot
RS746384751 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS751264690 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, TBX1-related disorder, DiGeorge syndrome
RS751339103 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS753192876 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, Cardiovascular phenotype, DiGeorge syndrome
RS755937050 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, DiGeorge syndrome, TBX1-related disorder
RS757290764 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Tetralogy of Fallot, Velocardiofacial syndrome
RS757648761 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS761127806 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS764197422 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS764497467 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS764911027 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, TBX1-related disorder, DiGeorge syndrome
RS767905417 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS774489872 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS774578030 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, TBX1-related disorder
RS775295536 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS780062926 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS781488741 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, DiGeorge syndrome
RS781731042 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tetralogy of Fallot, Conotruncal heart malformations
RS886038791 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, DiGeorge syndrome, Cardiovascular phenotype
RS918788695 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Conotruncal heart malformations, Velocardiofacial syndrome
RS941116789 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype, DiGeorge syndrome
RS952890575 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, DiGeorge syndrome, TBX1-related disorder
RS972035685 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, TBX1-related disorder, DiGeorge syndrome
RS1252544416 Health Risk Likely pathogenic Velocardiofacial syndrome, DiGeorge syndrome, Velocardiofacial syndrome
RS1466435688 Health Risk Likely pathogenic —
RS1555896814 Health Risk Likely pathogenic —
RS1555896828 Health Risk Likely pathogenic —
RS1601280018 Health Risk Likely pathogenic DiGeorge syndrome, DiGeorge syndrome
RS1936727304 Health Risk Likely pathogenic Velocardiofacial syndrome, Tetralogy of Fallot, DiGeorge syndrome
RS2145828319 Health Risk Likely pathogenic —
RS2517843174 Health Risk Likely pathogenic Tetralogy of Fallot, DiGeorge syndrome, Velocardiofacial syndrome
RS2517849988 Health Risk Likely pathogenic —
RS2517852372 Health Risk Likely pathogenic TBX1-related disorder, TBX1-related disorder
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