TGFBR1

transforming growth factor beta receptor 1
OMIM: 190181
PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 4.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome 1 609192
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LOEYS-DIETZ SYNDROME 1, LDS1
R-numbers: R100
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 1 609192, 609192
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LOEYS-DIETZ SYNDROME TYPE 2A 608967, LOEYS-DIETZ SYNDROME TYPE 1A 609192, AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 609192
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 1, 609192
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LOEYS-DIETZ SYNDROME TYPE 2A, LOEYS-DIETZ SYNDROME TYPE 1A, AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5
R-numbers: R190
Signed-off version 2.17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome, Pulmonary emphysema, Loeys-Dietz syndrome 1, 609192
R-numbers: R15
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome 1, 609192, Loeys Dietz syndrome due to TGFBR1 deficiency, Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms, Combined immunodeficiencies with associated or syndromic features, Loeys-Dietz syndrome 1, OMIM:609192
R-numbers: R125
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys Dietz syndrome, type 2A, 608967, Loeys-Dietz syndrome, Loeys Dietz syndrome, type 1A, 609192, Loeys Dietz syndrome, type 1A (609192)