Fetal anomalies
Gene: TBX6

TBX6 (T-box 6)
EnsemblGeneIds (GRCh38): ENSG00000149922
EnsemblGeneIds (GRCh37): ENSG00000149922
OMIM: 602427, Gene2Phenotype
TBX6 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

108 Chinese CVM cases identified 10 (9.3%) carried TBX6 null mutations in combination with common hypomorphic variants at the second TBX6 allele. Similar phenotype observed in mice with combined null and hypomorphic alleles of Tbx6 (PMID: 30307510)

200 patients with Congenital scoliosis (CS) or Spondylocostal dysostosis (SCD) were investigated for TBX6 variants. Five 16p11.2 deletions, one splice-site variant and five missense variants were identified in 10 patients. All CS patients with missense variants had the risk haplotype in the opposite allele, while a SCD patient with bi-allelic missense variants did not have the haplotype. Functional studies showed mislocalisation. Conclusion - Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis (PMID: 31015262)
Created: 13 Nov 2020, 7:59 a.m. | Last Modified: 13 Nov 2020, 7:59 a.m.

Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 5, 122600

Publications

Created: 13 Nov 2020, 7:59 a.m.
Last Modified: 13 Nov 2020, 7:59 a.m.
Panel version: Imported from Skeletal Dysplasia_Fetal panel version 0.34

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Phenotypes

Spondylocostal dysostosis 5 , MIM#122600

OMIM

602427

Clinvar variants

Variants in TBX6

Penetrance

None

Publications

Panels with this gene