TGFBR1:Ensemblv115

transforming growth factor beta receptor 1
OMIM: 190181, ClinGen, DECIPHER

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green TGFBR1 in Vasculitis


Level 2: Immunological disorders
Version 1.0

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

Green TGFBR1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

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

Green TGFBR1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green TGFBR1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

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

Green TGFBR1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

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

Green TGFBR1 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Green TGFBR1 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

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

Green TGFBR1 in Incidentalome


Version 1.0

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

Green TGFBR1 in Additional findings_Adult


Level 2: Screening
Version 2.0

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

Green TGFBR1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

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

Green TGFBR1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

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

Green TGFBR1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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

Green TGFBR1 in Pneumothorax

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.0

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

Green TGFBR1 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

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