Skeletal dysplasia
Gene: TBX6
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spondylocostal dysostosis 5 122600
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: greenCreated: 6 Mar 2019, 11:37 a.m.
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.
Tier 1Created: 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
Added phenotypes Spondylocostal dysostosis 5 122600 for gene: TBX6
Source NHS GMS was added to TBX6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for TBX6 were set to Spondylocostal dysostosis 5 122600
Mode of inheritance for TBX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TBX6 was added to Unexplained skeletal dysplasiapanel. Sources:
TBX6 was created by sleigh