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.

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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


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

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

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

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

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

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

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

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

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

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

TBX6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TBX6 gene.

More info about this panel

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

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

SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL DOMINANT Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TBX6 gene.

More info about this panel

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

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

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


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