TBX6 gene related symptoms and diseases
All the information presented here about the TBX6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TBX6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Missing ribs | Very Common - Between 80% and 100% cases |
| Short neck | Very Common - Between 80% and 100% cases |
| Severe short stature | Very Common - Between 80% and 100% cases |
| Scoliosis | Very Common - Between 80% and 100% cases |
| Abnormality of the ribs | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TBX6 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Posterior rib fusion
Not very common - Between 30% and 50% cases
- Short stature
- Abnormality of cardiovascular system morphology
- Recurrent respiratory infections
- Upslanted palpebral fissure
- Spina bifida occulta
- Hyperlordosis
- Macrocephaly
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TBX6 gene
Here you will find a list of rare diseases related to the TBX6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5
Alternate names
SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5 Is also known as costovertebral segmentation anomalies, scoliosis, congenital, with or without rib anomalies, spondylocostal dysplasia, spondylothoracic dysostosis
Most common symptoms of SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5
- Short stature
- Scoliosis
- Short neck
- Severe short stature
- Pectus carinatum
More info about SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5
SOURCES: OMIM
AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS
Alternate names
AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia
Description
Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.
Most common symptoms of AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS
- Microcephaly
- Scoliosis
- Cleft palate
- Wide nasal bridge
- Intrauterine growth retardation
More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS
SOURCES: ORPHANET
Search interest in TBX6
Potential gene panels for TBX6 gene
Spondylocostal dysostosis (NGS panel of 6 genes) Panel
Portugal.
By CGC Genetics Spondylocostal dysostosis (NGS panel of 6 genes) that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Portugal.
Spondylocostal dysostosis (NGS panel of 6 genes) Panel
Portugal.
By CGC Genetics Spondylocostal dysostosis (NGS panel of 6 genes) that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Portugal.
Spondylocostal Dysostosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Spondylocostal Dysostosis Sequencing Panel with CNV Detection that also includes the following genes: TBX6 HES7 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal Dysostosis via TBX6 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TBX6 gene.
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Spondylocostal dysostosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Spondylocostal dysostosis Deletion / Duplication panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal dysostosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Spondylocostal dysostosis Comprehensive panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal dysostosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Spondylocostal dysostosis NGS panel that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel United States.
Spondylocostal dysostosis type 5 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TBX6 gene.
More info about this panel Germany.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
TBX6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TBX6 gene.
More info about this panel United States.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL DOMINANT Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the TBX6 gene.
More info about this panel Spain.
SPONDYLOCOSTAL DYSOSTOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPONDYLOCOSTAL DYSOSTOSIS NGS PANEL that also includes the following genes: TBX6 HES7 RIPPLY2 DLL3 MESP2 LFNG
More info about this panel Spain.
Autosomal Dominant Spondylocostal Dysostosis Type 5 , Sequencing TBX6 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TBX6 gene.
More info about this panel Spain.
Spondylocostal Dysostosis , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Spondylocostal Dysostosis , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TBX6 HES7 DLL3 MESP2 LFNG
More info about this panel Spain.
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