Genomics England

TGFBR2

transforming growth factor beta receptor 2

OMIM: 190182

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	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 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Loeys-Dietz syndrome, Loeys-Dietz syndrome 2, 610168
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LOEYS-DIETZ SYNDROME, TGFBR2-RELATED LOEYS-DIETZ SYNDROME 249163
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Loeys-Dietz syndrome 2, OMIM:610168
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LOEYS-DIETZ SYNDROME, TGFBR2-RELATED LOEYS-DIETZ SYNDROME
Green in Pneumothorax - familial R-numbers: R190 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Pulmonary emphysema, MONDO:0004849, Loeys-Dietz syndrome type 2, OMIM:610168
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ALPS-FAS, Loeys-Dietz syndrome 2, OMIM:610168, Combined immunodeficiencies with associated or syndromic features, Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes 610168, Loeys-Dietz syndrome 2 610168
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Loeys-Dietz syndrome 2 610168
Green in Thoracic aortic aneurysm or dissection (GMS) R-numbers: R125 Signed-off version 3.0	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