Genomics England

SMAD4

SMAD family member 4

Panel	Mode of inheritance	Details
Filter panels13 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myhre syndrome 139210
Green in Cerebral vascular malformations R-numbers: R336 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Polyposis, juvenile intestinal, 174900, Juvenile Polyposis, Hereditary Hemorrhagic Telangiectasia
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MYHRE SYNDROME, MYHRS
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050, MYHRE SYNDROME, OMIM:139210
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MYHRE SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, JUVENILE POLYPOSIS SYNDROME
Green in Hereditary haemorrhagic telangiectasia R-numbers: R186 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Green in Inherited polyposis and early onset colorectal cancer - germline testing R-numbers: R211 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Polyposis, juvenile intestinal, OMIM:174900, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Myhre syndrome, 139210, Includes intellectual disability
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myhre syndrome 139210, Myhre syndrome 139210
Green in Thoracic aortic aneurysm or dissection (GMS) R-numbers: R125 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Green in Vascular skin disorders R-numbers: R326 Signed-off version 1.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome