TBX5 gene related symptoms and diseases
All the information presented here about the TBX5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TBX5 gene
Symptoms // Phenotype | % Cases |
---|---|
Phocomelia | Very Common - Between 80% and 100% cases |
Abnormal vertebral morphology | Very Common - Between 80% and 100% cases |
Partial duplication of thumb phalanx | Very Common - Between 80% and 100% cases |
Anomalous pulmonary venous return | Very Common - Between 80% and 100% cases |
Aplasia of the pectoralis major muscle | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TBX5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Down-sloping shoulders
- Thoracic scoliosis
- Absent thumb
- Atrioventricular canal defect
- Hypoplastic left heart
- Abnormality of the carpal bones
- Atrioventricular block
- Hypoplasia of the radius
And 100 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TBX5 gene
Here you will find a list of rare diseases related to the TBX5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HOLT-ORAM SYNDROME
Alternate names
HOLT-ORAM SYNDROME Is also known as heart-hand syndrome type 1, atriodigital dysplasia type 1, hos
Description
Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
Most common symptoms of HOLT-ORAM SYNDROME
- Scoliosis
- Ventricular septal defect
- Atrial septal defect
- Kyphosis
- Abnormality of cardiovascular system morphology
More info about HOLT-ORAM SYNDROME
SOURCES: ORPHANET
HOLT-ORAM SYNDROME; HOS
Alternate names
HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia, heart-hand syndrome, hos1
Description
Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).
Most common symptoms of HOLT-ORAM SYNDROME; HOS
- Intellectual disability
- Short stature
- Failure to thrive
- Micrognathia
- Cleft palate
More info about HOLT-ORAM SYNDROME; HOS
SOURCES: OMIM
Search interest in TBX5
Potential gene panels for TBX5 gene
Holt-Oram Syndrome - TBX5 Sequencing Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the TBX5 gene.
More info about this panelHolt-Oram Syndrome - TBX5 Del/dup Analysis Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the TBX5 gene.
More info about this panelTBX5 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the TBX5 gene.
More info about this panelCongenital Heart Disease Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Heart Disease Panel that also includes the following genes: TBX1 TBX5 NKX2-5
More info about this panelPrenatal TBX5 Gene Sequencing Panel
By GeneDx
This panel specifically test the TBX5 gene.
More info about this panelTBX5 Gene Sequencing Panel
By GeneDx
This panel specifically test the TBX5 gene.
More info about this panelCardioNext with TTN Panel
By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5
More info about this panelCustomNext: Cardio Panel
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panelRhythmNext Panel
By Ambry Genetics RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1
More info about this panelRhythmFirst reflex RhythmNext Panel
By Ambry Genetics RhythmFirst reflex RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1
More info about this panelTBX5 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the TBX5 gene.
More info about this panelTBX5. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TBX5 gene.
More info about this panelHolt-Oram syndrome (sequence analysis of TBX5 gene) Panel
By CGC Genetics
This panel specifically test the TBX5 gene.
More info about this panelHolt-Oram syndrome (deletion/duplication analysis on TBX5 gene) Panel
By CGC Genetics
This panel specifically test the TBX5 gene.
More info about this panelTBX5-Related Holt-Oram Syndrome Panel
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the TBX5 gene.
More info about this panelCongenital Limb Malformation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panelComprehensive Cardiology Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panelHolt-Oram Syndrome (HOS) via TBX5 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TBX5 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelCongenital heart disease Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Congenital heart disease Deletion / Duplication panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panelCongenital heart disease Comprehensive panel Panel
By Connective Tissue Gene Tests Congenital heart disease Comprehensive panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panelCongenital heart disease NGS panel Panel
By Connective Tissue Gene Tests Congenital heart disease NGS panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panelHeart Diseases - panels Panel
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelTBX5-Related Holt-Oram Syndrome Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the TBX5 gene.
More info about this panelHolt Oram Syndrome Panel
By GeneTech ATS GeneTech Private Limited
This panel specifically test the TBX5 gene.
More info about this panelTBX5 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the TBX5 gene.
More info about this panelCongenital heart defects panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Congenital heart defects panel that also includes the following genes: BRAF SOS1 TAZ TBX20 TBX5 ZIC3 ACTC1 CRELD1 CBL SHOC2
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelHolt-Oram syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TBX5 gene.
More info about this panelCongenital Heart Defects Panel Panel
By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1
More info about this panelSelected Genetic Syndromes with skeletal involvement Panel Panel
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panelAuricular Fibrillation Panel Panel
By Health in Code Auricular Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelVentricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panelCardiac Conduction Disease Panel Panel
By Health in Code Cardiac Conduction Disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 LDB3 HCN4
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelCongenital Heart Diseases Panel Panel
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
More info about this panelVentricular arrhythmia and sudden death without structural heart disease Panel
By Health in Code Ventricular arrhythmia and sudden death without structural heart disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TBX5 TNNC1 TNNI3
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelCardiac conduction disease Panel Panel
By Health in Code Cardiac conduction disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 IRX3 KCNK17
More info about this panelAtrial fibrillation Panel Panel
By Health in Code Atrial fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelCongenital heart diseases Panel Panel
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panelTBX5-Related Holt-Oram Syndrome Panel
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the TBX5 gene.
More info about this panelHolt-Oram syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the TBX5 gene.
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelHolt-Oram syndrome Panel
By MedGene
This panel specifically test the TBX5 gene.
More info about this panelInvitae Congenital Heart Defects and Heterotaxy Panel Panel
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panelInvitae Holt-Oram Syndrome Test Panel
By Invitae
This panel specifically test the TBX5 gene.
More info about this panelInvitae Congenital Heart Disease Panel Panel
By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL
More info about this panelHolt-Oram syndrome: TBX5 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TBX5 gene.
More info about this panelLimb Malformation: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5
More info about this panelSkeletal Dysplasia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panelFamilial Congenital Heart Disease Full Gene Sequencing Panel Panel
By Integrated Genetics Westborough Integrated Genetics Familial Congenital Heart Disease Full Gene Sequencing Panel that also includes the following genes: TBX5 CHD7 NKX2-5 GATA4
More info about this panelPan-Cardio NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
More info about this panelSkeletal Dysplasias NGS panel Panel
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panelTBX5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TBX5 gene.
More info about this panelAtrial Fibrillation Panel Panel
By Blueprint Genetics Atrial Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 CACNB2 LDB3 HCN4 SCN3B GATA6
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelCongenital Structural Heart Disease Panel Panel
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panelArrhythmia Panel Panel
By Blueprint Genetics Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 TGFB3 TNNI3 TNNT2 TRDN TTN
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelDilated Cardiomyopathy (DCM) Panel Panel
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panelLimb Malformations Panel Panel
By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
More info about this panelHolt-Oram syndrome Panel
By Bioarray
This panel specifically test the TBX5 gene.
More info about this panelTBX5 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the TBX5 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelCONGENITAL HEART DEFECTS: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS: NGS PANEL that also includes the following genes: TBX1 TBX20 TBX5 ZIC3 ACTC1 CRELD1 ZFPM2 TAB2 CFC1 CITED2
More info about this panelFAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2
More info about this panelHOLT-ORAM SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the TBX5 gene.
More info about this panelFAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1
More info about this panelHolt Oram Syndrome, Sequencing TBX5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TBX5 gene.
More info about this panelHolt Oram Syndrome , Deletions-Duplications (MLPA) TBX5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TBX5 gene.
More info about this panelCardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes Panel
By Reference Laboratory Genetics Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SCN10A SCN1B SCN5A TBX5 TTR CACNA1D ACTC1 HCN4 TRPM4 TNNI3K
More info about this panelHolt-Oram Syndrome: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TBX5 gene.
More info about this panelHolt-Oram Syndrome: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TBX5 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ENPEP HPSE2 TUBGCP6 SMIM1 NKX3-2 TERT GNPTAB