Multiple bowel polyps

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 11 panels

3 reviews

Ian Frayling (Cardiff University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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 gene.
Created: 29 Jan 2016, 2:49 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polyposis, juvenile intestinal, 174900
  • Polyposis syndrome, hereditary mixed, 2, 610069
  • Juvenile polyposis syndrome, infantile form, 174900
  • Juvenile Polyposis Syndrome
  • juvenile polyposis
OMIM
601299
Clinvar variants
Variants in BMPR1A
Penetrance
Complete
Panels with this gene

History Filter Activity

1 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BMPR1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BMPR1A was added to Multiple bowel polypspanel. Source: Eligibility statement prior genetic testing

28 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BMPR1A was added to Multiple bowel polypspanel. Source: UKGTN

28 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BMPR1A was added to Multiple bowel polypspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Eligibility statement prior genetic testing