PanelApp (stage)
  1. Genes and Genomic Entities
  2. TGFBR1

TGFBR1

transforming growth factor beta receptor 1
OMIM: 190181, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green TGFBR1 in Vasculitis


Level 2: Immunological disorders
Version 0.82

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

Green TGFBR1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Loeys-Dietz syndrome 1, MIM# 609192

Green TGFBR1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Green TGFBR1 in Bleeding and Platelet Disorders


    Level 2: Haematological disorders
    Version 1.43

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 1, MIM# 609192

    Green TGFBR1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.418

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 1, MIM# 609192

    Green TGFBR1 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

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

    Green TGFBR1 in Inflammatory bowel disease


    Level 2: Gastroenterological disorders
    Version 0.121

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

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

    Green TGFBR1 in Incidentalome


    Version 0.301

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Loeys-Dietz syndrome 1, MIM# 609192
    Tags
    • cardiac

    Green TGFBR1 in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Loeys-Dietz syndrome 1, MIM# 609192

    Green TGFBR1 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 1 MIM#609192

    Red TGFBR1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 1
    • OMIM #609192

    Red TGFBR1 in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Multiple self healing squamous epithelioma

    Red TGFBR1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Loeys-Dietz syndrome 1 609192

    Green TGFBR1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Loeys-Dietz syndrome

    Green TGFBR1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • LOEYS-DIETZ SYNDROME 1
    • LDS1

    Red TGFBR1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • Expert Review Red
    • NSW Health Pathology

    Green TGFBR1 in Fetal anomalies


    Version 1.255

    		review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 1, MIM# 609192

    Green TGFBR1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Loeys-Dietz syndrome 1, MIM# 609192
    Tags
    • cardiac
    • treatable

    Green TGFBR1 in Pneumothorax

    Level 3: Structural lung disorders
    Level 2: Respiratory disorders
    Version 0.11

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pulmonary emphysema, MONDO:0004849
    • Loeys-Dietz syndrome 1, OMIM:609192

    Green TGFBR1 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 1, MIM# 609192