Skeletal dysplasia
Gene: TBX5
Limb hypoplasia-reduction defects gp of SD >3 families; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holt-Oram syndrome 142900
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: TBX5; 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, 1:35 p.m.
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holt-Oram syndrome 142900
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Holt-Oram syndrome 142900 for gene: TBX5
Source NHS GMS was added to TBX5. 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 TBX5 were set to Holt-Oram syndrome 142900
Mode of inheritance for TBX5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TBX5 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TBX5 was created by sleigh
TBX5 was added to Unexplained skeletal dysplasiapanel. Sources: