GI tract tumours
Gene: BMPR1AEnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 panels
7 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:26 p.m. | Last Modified: 31 Jul 2019, 12:26 p.m.
Panel Version: 1.13
Rachel Robinson (Leeds Genetics Laboratory)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Ian Frayling (Cardiff University)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: From review and confirmed on OMIM.Created: 1 Mar 2016, 11:12 a.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Current diagnostic for juvenile polyposis which can present as bowel cancer.Created: 7 Feb 2016, 9:32 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert List
- UKGTN
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert Review Green
- Phenotypes
-
- Gastrointestinal and Colorectal Cancer
- High Risk Colorectal Cancer
- juvenile polyposis
- Polyposis, juvenile intestinal, 174900
- Polyposis syndrome, hereditary mixed, 2, 610069
- Juvenile polyposis syndrome, infantile form, 174900
- Juvenile Polyposis Syndrome
- 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
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to BMPR1A. Source NHS GMS was added to BMPR1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
Added New Source
Ellen McDonagh (Genomics England Curator)BMPR1A was added to GI tractpanel. Source: Radboud University Medical Center, Nijmegen BMPR1A was added to GI tractpanel. Source: UKGTN BMPR1A was added to GI tractpanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)BMPR1A was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)BMPR1A was created by ellenmcdonagh