Skeletal dysplasia
Gene: TBX4

TBX4 (T-box 4)
EnsemblGeneIds (GRCh38): ENSG00000121075
EnsemblGeneIds (GRCh37): ENSG00000121075
OMIM: 601719, Gene2Phenotype
TBX4 is in 6 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Patellar dysostoses gp of SD ->3 families; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ischiocoxopodopatellar syndrome 147891

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: TBX4; 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 when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 1 Aug 2016, 8:08 a.m.

Created: 1 Aug 2016, 8:08 a.m.

Panel version: 0.1189

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:08 a.m.

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

Phenotypes
Ischiocoxopodopatellar syndrome 147891

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
Illumina TruGenome Clinical Sequencing Services
Expert list
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891

OMIM

601719

Clinvar variants

Variants in TBX4

Penetrance

Complete

Panels with this gene

History Filter Activity

2 Aug 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome 147891; Ischiocoxopodopatellar syndrome 147891 to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Ischiocoxopodopatellar syndrome 147891 for gene: TBX4

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TBX4. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4