TGFBR2

transforming growth factor beta receptor 2
OMIM: 190182
PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome 2 610168
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome, Loeys-Dietz syndrome 2, 610168
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
610168, Loeys-Dietz syndrome 2 610168
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, TGFBR2-RELATED LOEYS-DIETZ SYNDROME 249163
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome 2, 610168
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LOEYS-DIETZ SYNDROME, TGFBR2-RELATED LOEYS-DIETZ SYNDROME
R-numbers: R190
Signed-off version 2.17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome, Pulmonary emphysema, Loeys-Dietz syndrome type 2, 610168
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 2 610168
R-numbers: R125
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome, Loeys Dietz syndrome, type 1B, 610168, Loeys Dietz syndrome, type 2 (610168), Loeys Dietz syndrome, type 2B, 610380