Skeletal dysplasia
Gene: TBX6

TBX6 (T-box 6)
EnsemblGeneIds (GRCh38): ENSG00000149922
EnsemblGeneIds (GRCh37): ENSG00000149922
OMIM: 602427, Gene2Phenotype
TBX6 is in 3 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

characterized clinically by: a short trunk in proportion to height; Dysostoses with predominant vertebral with and without costal involvement gp of SD. Several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondylocostal dysostosis 5 122600

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TBX6; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:13 p.m.

Created: 21 Jun 2016, 1:13 p.m.

Panel version: 0.85

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spondylocostal dysostosis 5 122600

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

Spondylocostal dysostosis 5 122600
Spondylocostal dysostosis 5 122600

OMIM

602427

Clinvar variants

Variants in TBX6

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondylocostal dysostosis 5 122600 for gene: TBX6

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TBX6. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4