Peutz-Jeghers syndrome
Gene: BMPR1AComment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P for Polyposis, juvenile intestinal, 174900. At least 8 variants reported in Polyposis, juvenile intestinal, 174900. However, the polyps found in Polyposis, juvenile intestinal, 174900; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900 are not hamartomatous polyps characteristic of Peutz-Jeghers syndrome.Created: 11 Apr 2017, 2:46 p.m.
Comment on phenotypes: High Risk Colorectal CancerCreated: 11 Apr 2017, 2:44 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for BMPR1A were set to Polyposis, juvenile intestinal, 174900; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900
BMPR1A was added to Peutz-Jeghers syndromepanel. Source: Radboud University Medical Center, Nijmegen BMPR1A was added to Peutz-Jeghers syndromepanel. Source: UKGTN BMPR1A was added to Peutz-Jeghers syndromepanel. Source: Eligibility statement prior genetic testing
BMPR1A was created by ellenmcdonagh
BMPR1A was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert Review Green