This Panel is marked as Internal
Peutz-Jeghers syndrome
Gene: BMPR1A
BMPR1A (bone morphogenetic protein receptor type 1A)
EnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 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 CancerCreated: 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
-
- GI tract tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
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