TBX4

T-box 4
OMIM: 601719, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TBX4 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
  • Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360

Green TBX4 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891

Green TBX4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ischiocoxopodopatellar syndrome 147891
  • Ischiocoxopodopatellar syndrome 147891

Green TBX4 in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891

Green TBX4 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891