PanelApp
  1. Genes and Genomic Entities
  2. TGFB2

TGFB2

transforming growth factor beta 2
OMIM: 190220, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green TGFB2 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.100

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Loeys-Dietz syndrome 4, MIM# 614816

Green TGFB2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TGFB2 in Bleeding and Platelet Disorders


    Level 2: Haematological disorders
    Version 1.62

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 4, MIM# 614816

    Green TGFB2 in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 4, MIM# 614816
    • Camurati-Engelmann disease 2, MIM# 606631

    Green TGFB2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 4, MIM# 614816
    • Camurati-Engelmann disease 2, MIM# 606631

    Red TGFB2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 4, 614816

    Green TGFB2 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Loeys-Dietz syndrome 4, MIM# 614816

    Green TGFB2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Loeys-Dietz syndrome 4, MIM# 614816
    Tags
    • cardiac
    • treatable

    Green TGFB2 in Pneumothorax

    Level 3: Structural lung disorders
    Level 2: Respiratory disorders
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 4, OMIM:614816
    • Pulmonary emphysema, MONDO:0004849

    Green TGFB2 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 4, MIM# 614816

    Green TGFB2 in Spontaneous coronary artery dissection


    Level 2: Cardiovascular disorders
    Version 0.56

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Loeys-Dietz syndrome 4 MIM#614816