Inherited polyposis and early onset colorectal cancer - germline testing
Gene: SMAD4Comment on phenotypes: This gene is also associated with Myhre syndrome (MIM# 139210) and Pancreatic cancer, somatic (MIM# 260350)Created: 8 Mar 2021, 10:53 a.m. | Last Modified: 8 Mar 2021, 10:53 a.m.
Panel Version: 1.19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile polyposis
Publications
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
Comment on phenotypes: Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer. Variants also associated with Myhre syndrome, 139210 and Pancreatic cancer, somatic 260350Created: 12 May 2017, 1:19 p.m.
Comment on list classification: Current diagnostic for juvenile polyposis which can present as bowel cancer.Created: 7 Feb 2016, 9:33 p.m.
Phenotypes for gene: SMAD4 were changed from Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 to Polyposis, juvenile intestinal, OMIM:174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Added phenotypes Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 for gene: SMAD4
Mode of inheritance for gene: SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: smad4 has been classified as Green List (High Evidence).
gene: SMAD4 was added gene: SMAD4 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: SMAD4 was set to