TGFBR1

transforming growth factor beta receptor 1
OMIM: 190181
PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 3.2
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LOEYS-DIETZ SYNDROME 1, LDS1
R-numbers: R100
Signed-off version 2.2
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 2.2
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
Signed-off version 1.92
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: R125
Signed-off version 1.2
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)