Genomics England

transforming growth factor beta 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Loeys-Dietz syndrome 4 614816
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 4 614816
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 4, OMIM:614816
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LOEYS-DIETZ SYNDROME, TYPE 4
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 4, OMIM:614816
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Loeys-Dietz syndrome 4 614816
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 4, 614816, Loeys-Dietz syndrome 4 (614816)