Skeletal dysplasia
Gene: TBX3
Limb hypoplasia-reduction defects gp of SD. At least 3 cases. del 12q24.21, may also include TBX5. Also LOF in gene.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ulnar-mammary syndrome 181450
Publications
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: TBX3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 1:31 p.m.
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ulnar-mammary syndrome 181450
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Ulnar-mammary syndrome 181450 for gene: TBX3 Publications for gene TBX3 were changed from to 28961683; 30654152; 28145909
Source NHS GMS was added to TBX3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TBX3 were set to Ulnar-mammary syndrome 181450
Mode of inheritance for TBX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TBX3 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TBX3 was created by sleigh
TBX3 was added to Unexplained skeletal dysplasiapanel. Sources: