Peutz-Jeghers syndrome

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

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

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