TGFB3

transforming growth factor beta 3
OMIM: 190230, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green TGFB3 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.87

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Loeys-Dietz syndrome 5, MI# 615582

Green TGFB3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red TGFB3 in Arrhythmogenic Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 0.68

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
    Tags
    • 5'UTR

    Green TGFB3 in Bleeding and Platelet Disorders


    Level 2: Haematological disorders
    Version 1.52

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 5, MIM# 615582

    Green TGFB3 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 5, MIM# 615582

    Red TGFB3 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

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

    Red TGFB3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia

    Green TGFB3 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

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

    Green TGFB3 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Loeys-Dietz syndrome 5, MIM# 615582

    Green TGFB3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Loeys-Dietz syndrome 5 , MIM#615582
    Tags
    • cardiac
    • treatable

    Green TGFB3 in Pneumothorax

    Level 3: Structural lung disorders
    Level 2: Respiratory disorders
    Version 1.0

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

    Green TGFB3 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 5, MIM# 615582

    Green TGFB3 in Spontaneous coronary artery dissection


    Level 2: Cardiovascular disorders
    Version 0.56

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Loeys-Dietz syndrome 5 MIM#615582