rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
22113417
2012
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.
21949523
2011
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
20101701
2010
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
20358619
2010
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
19533785
2009
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
19883511
2009
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
16251899
2006
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
16027248
2005
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Heterozygous TGFBR2 mutations in Marfan syndrome.
15235604
2004
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
T
0.800
CausalMutation
CLINVAR
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ.
27508510
2016
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
25644172
2015
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
21267002
2011
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
21098638
2010
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
19159394
2009
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
19542084
2009
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
16799921
2006
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
16251899
2006
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
16027248
2005
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
0.010
GeneticVariation
BEFREE
Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg) )) in the TGFBR2 gene.
28344185
2017
rs104893811
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Marfan Syndrome type 2
0.010
GeneticVariation
BEFREE
By contrast, R460C , which has been found in familial TAAD but not in MFS2 or LDS, showed a less-severe dominant-negative effect and retained residual Smad phosphorylation and transcriptional activity.
21098638
2010