GI tract tumours
Gene: SMAD4EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 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)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Ian Frayling (Cardiff University)
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 260350Created: 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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert List
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- UKGTN
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Polyposis, juvenile intestinal, 174900
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Vascular skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Pulmonary arterial hypertension
- Bleeding and platelet disorders
- DDG2P
- Clefting
- Cerebral vascular malformations
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Skeletal dysplasia
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
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)
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
Set publications
Sarah Leigh (Genomics England Curator)Publications for SMAD4 were set to 16246179
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SMAD4 were set to Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
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
Created
Ellen McDonagh (Genomics England Curator)SMAD4 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Green