Inherited polyposis and early onset colorectal cancer - germline testing
Gene: BMPR1AAs 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, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.
Panel Version: 0.48
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Mixed Polyposis Syndrome
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.
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.
Phenotypes for gene: BMPR1A were changed from Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis to Polyposis syndrome, hereditary mixed, 2, OMIM:610069; Polyposis, juvenile intestinal, OMIM:174900
Added phenotypes Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis for gene: BMPR1A
Mode of inheritance for gene: BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: bmpr1a has been classified as Green List (High Evidence).
gene: BMPR1A was added gene: BMPR1A was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: BMPR1A was set to