GI tract tumoursGene: BMPR1A
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
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Comment on mode of inheritance: From review and confirmed on OMIM.
Created: 1 Mar 2016, 11:12 a.m.
Comment on list classification: Current diagnostic for juvenile polyposis which can present as bowel cancer.
Created: 7 Feb 2016, 9:32 p.m.
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)
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
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
BMPR1A was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Green
BMPR1A was created by ellenmcdonagh