SMAD4

SMAD family member 4
OMIM: 600993
PanelMode of inheritanceDetails
13 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myhre syndrome 139210
R-numbers: R336
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
JUVENILE POLYPOSIS SYNDROME 174900, MYHRE SYNDROME 139210, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MYHRE SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, JUVENILE POLYPOSIS SYNDROME
R-numbers: R186
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
R-numbers: R211, R209
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polyposis, juvenile intestinal, 174900, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myhre syndrome, 139210, Includes intellectual disability
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myhre syndrome 139210, Myhre syndrome 139210
R-numbers: R125
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
R-numbers: R359
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polyposis, juvenile intestinal, 174900, Juvenile Polyposis, Hereditary Hemorrhagic Telangiectasia
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome