1. Genes and Genomic Entities
  2. TBX4

TBX4

T-box 4
OMIM: 601719, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green TBX4 in Limb disorders


Level 2: Musculoskeletal
Version 8.3
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
    Green TBX4 in Pulmonary arterial hypertension


    Level 2: Respiratory
    Version 4.11
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    Phenotypes
    • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
    Green TBX4 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
    Green TBX4 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
    Green TBX4 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SMALL PATELLA SYNDROME 147891
    Red TBX4 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.2
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Small patella syndrome, 147891
    Green TBX4 in Childhood interstitial lung disease


    Level 2: Respiratory
    Version 1.1
    Latest signed off version: v1.0 (6 May 2026)

    		review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • autosomal recessive amelia, MONDO:0011054
    • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
    • Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, OMIM:601360
    • congenital alveolar dysplasia due to TBX4, MONDO:0100097