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 1.86

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 0.416

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

Green TGFB2 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 4, MIM# 614816

Green TGFB2 in Mendeliome


Version 1.2302

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 Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.302

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

Red TGFB2 in Clefting disorders

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

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

Green TGFB2 in Fetal anomalies


Version 1.313

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

Green TGFB2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

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 1.0

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 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 4, MIM# 614816

Green TGFB2 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 4 MIM#614816