Inherited polyposis

Gene: SMAD4

Green List (high evidence)

SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 26 panels

6 reviews

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

Ian Frayling (Cardiff University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Juvenile polyposis

Publications

  • Chow, E., & Macrae, F. A review of juvenile polyposis syndrome. Journal of Gastroenterology and Hepatology 2005
  • 20: 1634-1640.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

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

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer. Variants also associated with Myhre syndrome, 139210 and Pancreatic cancer, somatic 260350
Created: 12 May 2017, 1:19 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Current diagnostic for juvenile polyposis which can present as bowel cancer.
Created: 7 Feb 2016, 9:33 p.m.

History Filter Activity

2 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 for gene: SMAD4

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: smad4 has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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