This Panel is marked as Internal
Peutz-Jeghers syndrome
Gene: SMAD4
SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- UKGTN
- Eligibility statement prior genetic testing
- Expert Review Green
- Emory Genetics Laboratory
- Expert Review Green
- Phenotypes
-
- Gastrointestinal and Colorectal Cancer
- High Risk Colorectal Cancer
- juvenile polyposis
- Pancreatic cancer
- Polyposis, juvenile intestinal, 174900
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
- Myhre syndrome, 139210
- Juvenile Polyposis Syndrome
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- Complete
- Publications
-
- Chow, E., & Macrae, F. A review of juvenile polyposis syndrome. Journal of Gastroenterology and Hepatology 2005
- 20: 1634-1640.
- 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
3 Jun 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Peutz-Jeghers syndromepanel. Source: Radboud University Medical Center, Nijmegen SMAD4 was added to Peutz-Jeghers syndromepanel. Source: UKGTN SMAD4 was added to Peutz-Jeghers syndromepanel. Source: Eligibility statement prior genetic testing
3 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SMAD4 was created by ellenmcdonagh
3 Jun 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD4 was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert Review Green