TGFBR1

transforming growth factor beta receptor 1
OMIM: 190181, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green TGFBR1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Green TGFBR1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Loeys-Dietz-Syndrome

Red TGFBR1 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.60

review Not set
Sources
  • Expert Review Red
  • Expert list

Green TGFBR1 in COVID-19 research


Level 2: Viral research
Version 1.79

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Loeys-Dietz syndrome 1, 609192
  • Loeys Dietz syndrome due to TGFBR1 deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms

Red TGFBR1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.58
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Loeys-Dietz syndrome 1 609192

Green TGFBR1 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.37
Latest signed off version: v2.17 (3 Mar 2020)

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

Red TGFBR1 in Primary immunodeficiency


Version 2.465
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification December 2019
Phenotypes
  • Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
  • Loeys Dietz syndrome due to TGFBR1 deficiency
  • Loeys-Dietz syndrome 1, 609192
  • Combined immunodeficiencies with associated or syndromic features

Green TGFBR1 in Thoracic aortic aneurysm and dissection


Version 1.18
Latest signed off version: v1.2 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • South West GLH
  • London South GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Loeys Dietz syndrome, type 2A, 608967
  • Loeys-Dietz syndrome
  • Loeys Dietz syndrome, type 1A, 609192
  • Loeys Dietz syndrome, type 1A (609192)

Green TGFBR1 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.123

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome
  • Loeys Dietz syndrome, type 2A, 608967
  • Loeys Dietz syndrome, type 1A, 609192
  • Loeys Dietz syndrome, type 1A (609192)

Green TGFBR1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.122
Latest signed off version: v3.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Loeys-Dietz syndrome 1 609192

No list TGFBR1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.119
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Loeys-Dietz syndrome 1 609192
    • Loeys-Dietz syndrome 1 609192
    Tags
    • curated_removed

    Green TGFBR1 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.63
    Latest signed off version: v2.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 1, OMIM:609192

    Green TGFBR1 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LOEYS-DIETZ SYNDROME TYPE 2A
    • LOEYS-DIETZ SYNDROME TYPE 1A
    • AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5

    Green TGFBR1 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.53
    Latest signed off version: v2.2 (13 Feb 2020)

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

    Green TGFBR1 in DDG2P


    Version 2.44
    Latest signed off version: v2.2 (13 Feb 2020)

    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 TYPE 2A 608967
    • LOEYS-DIETZ SYNDROME TYPE 1A 609192
    • AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 609192

    Green TGFBR1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.49
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

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

    Red TGFBR1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1277
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Loeys-Dietz syndrome 1, 609192 (includes uncommon developmental delay and mental retardation)

    Green TGFBR1 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Loeys-Dietz syndrome 1, 609192