Multiple bowel polyps
Gene: SMAD4EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
1 review
Ian Frayling (Cardiff University)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Pancreatic cancer
- Polyposis, juvenile intestinal, 174900
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
- Myhre syndrome, 139210
- Juvenile Polyposis Syndrome
- juvenile polyposis
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- Complete
- Panels with this gene
-
- Vascular skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Pulmonary arterial hypertension
- Bleeding and platelet disorders
- Clefting
- Structural eye disease
- Skeletal dysplasia
- Cerebral vascular malformations
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SMAD4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Multiple bowel polypspanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Multiple bowel polypspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Multiple bowel polypspanel. Source: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Multiple bowel polypspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Eligibility statement prior genetic testing