GI tract tumours

Gene: SMAD4

Green List (high evidence)

SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 27 panels

6 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:27 p.m. | Last Modified: 31 Jul 2019, 12:27 p.m.
Panel Version: 1.13

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.

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

29 Jan 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to SMAD4. Source NHS GMS was added to SMAD4. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 May 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel

12 May 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SMAD4 were set to 16246179

12 May 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SMAD4 were set to Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SMAD4 was added to GI tractpanel. Source: Radboud University Medical Center, Nijmegen SMAD4 was added to GI tractpanel. Source: UKGTN SMAD4 was added to GI tractpanel. Source: Eligibility statement prior genetic testing

11 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SMAD4 was created by ellenmcdonagh

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SMAD4 was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Green