Peutz-Jeghers syndrome

Gene: BMPR1A

Green List (high evidence)

BMPR1A (bone morphogenetic protein receptor type 1A)
EnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment 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 Cancer
Created: 11 Apr 2017, 2:44 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
Phenotypes
  • Polyposis, juvenile intestinal, 174900
  • Polyposis syndrome, hereditary mixed, 2, 610069
  • Juvenile polyposis syndrome, infantile form, 174900
OMIM
601299
Clinvar variants
Variants in BMPR1A
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Apr 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for BMPR1A were set to Polyposis, juvenile intestinal, 174900; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900

3 Jun 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

3 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BMPR1A was created by ellenmcdonagh

3 Jun 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

BMPR1A was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert Review Green