TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Chromosome 22q11 deletion or CATCH 22 is associated with DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. 9986884 1999
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. 11242110 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE These include the 3-Mb region commonly deleted in DiGeorge/velocardiofacial syndrome (DGS/VCFS), the cat eye syndrome (CES) region, and more distal regions in 22q11 that have recently been shown to be deleted. 18033723 2008
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease LHGDN By providing functional data to indicate loss-of-function produced by the 1223delC TBX1 mutation, our results provide strong support for the conclusion that TBX1 mutations can cause DGS in humans. 15703190 2005
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome). 9801257 1998
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE The low-copy repeat (LCR) is a new class of repetitive DNA element and has been implicated in many human disorders, including DiGeorge/velocardiofacial syndrome (DGS/VCFS). 16307865 2006
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. 30799418 2019
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). 28059126 2017
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome. 16915592 2006
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease UNIPROT We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. 26742502 2016
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype. 28436605 2017
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS)-are associated with four, three, and one dose, respectively, of parts of 22q11. 11925570 2002
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE This report describes the use of metyrosine (Demser) in an adolescent male with psychosis associated with the 22q11.2 deletion syndrome (velocardiofacial syndrome; VCFS), diagnosed by fluorescence in situ hybridization (FISH). 17343559 2007
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. 9216164 1997
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Mice hemizygous at the Tbx1 locus show a remarkable incidence of heart outflow tract anomalies, of the same type commonly found in DiGeorge/Velo-cardio-facial syndrome (DGS/VCFS). 12700609 2003
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. 24637876 2014
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Deletion of Tbx1 or Prodh (22q11 genes independently associated with 22q11DS phenotypes) does not similarly disrupt basal progenitors. 19805316 2009
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE To demonstrate the efficiency, sensitivity, and specificity of PRINS in the diagnosis of microdeletions, we studied groups of patients with Prader Willi/Angelman (PWS/AS) syndrome and DiGeorge/velocardiofacial syndrome (DGS/VCFS). 11807885 2002
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE 22q11 deletion syndrome (22qDS), also known as DiGeorge or velocardiofacial syndrome (DGS/VCFS), is a relatively common genetic anomaly that results in malformations of the heart, face and limbs. 12175881 2002
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE DiGeorge syndrome, or velocardiofacial syndrome (DGS/VCFS), is a rare and usually sporadic congenital genetic disorder resulting from a constitutional microdeletion at chromosome 22q11.2. 20730472 2011
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. 15523900 2005
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Haploinsufficiency or mutation of TBX1 is largely responsible for the etiology of physical malformations in individuals with velo-cardio-facial/DiGeorge syndrome (VCFS/DGS/22q11.2 deletion syndrome). 24797903 2014
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 GeneticVariation disease BEFREE Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. 20060941 2010