1. Genes and Genomic Entities
  2. TGFB3

TGFB3

transforming growth factor beta 3
OMIM: 190230, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green TGFB3 in Pneumothorax - familial


Level 2: Respiratory
Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Pulmonary emphysema, MONDO:0004849
  • Loeys-Dietz syndrome 5, OMIM:615582
Red TGFB3 in Arrhythmogenic right ventricular cardiomyopathy


Level 2: Cardiology
Version 3.15
Latest signed off version: v3.13 (30 Apr 2025)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Red
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 1
    Green TGFB3 in Thoracic aortic aneurysm or dissection (GMS)


    Level 2: Cardiology
    Version 4.5
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • London South GLH
    • South West GLH
    • London South GLH
    Phenotypes
    • Loeys-Dietz syndrome 5, 615582
    • Arrhythmogenic right ventricular dysplasia 1, 107970
    Green TGFB3 in Thoracic aortic aneurysm or dissection

    Level 3: Connective tissue disorders and aortopathies
    Level 2: Cardiovascular disorders
    Version 1.129

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Green
    • Literature
    Phenotypes
    • Loeys-Dietz syndrome 5, 615582
    • Arrhythmogenic right ventricular dysplasia 1, 107970
    Green TGFB3 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Loeys-Dietz syndrome 5 615582
    Green TGFB3 in Ehlers Danlos syndrome with a likely monogenic cause


    Level 2: Musculoskeletal
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Loeys-Dietz syndrome 5, OMIM:615582
    Green TGFB3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LOEYS-DIETZ SYNDROME
    Green TGFB3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LOEYS-DIETZ SYNDROME 615582
    Green TGFB3 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • LOEYS-DIETZ SYNDROME 5
    • LDS5
    Red TGFB3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    • Arrhythmogenic right ventricular dysplasia 1, 107970
    • ?Rienhoff syndrome, 615582
    Red TGFB3 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London South GLH
    • Expert Review Red
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 1