Genomics England

TGFBR1

transforming growth factor beta receptor 1

OMIM: 190181

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	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 6.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LOEYS-DIETZ SYNDROME 1, LDS1
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	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
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Loeys-Dietz syndrome 1, OMIM:609192
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LOEYS-DIETZ SYNDROME TYPE 2A, LOEYS-DIETZ SYNDROME TYPE 1A, AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5
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 1, OMIM:609192
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	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
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Loeys-Dietz syndrome 1 609192, 609192
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, type 2A, 608967, Loeys-Dietz syndrome, Loeys Dietz syndrome, type 1A, 609192, Loeys Dietz syndrome, type 1A (609192)