Inherited polyposis

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 10 panels

8 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, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.
Panel Version: 0.48

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

Ian Frayling (Cardiff University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary Mixed Polyposis Syndrome

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.

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, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
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
OMIM
601299
Clinvar variants
Variants in BMPR1A
Penetrance
None
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: bmpr1a has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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