Research panel - Severe Paediatric Disorders
Gene: BMPR1A

BMPR1A (bone morphogenetic protein receptor type 1A)
EnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: BMPR1A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Juvenile polyposis syndrome, infantile form, 174900 (3) | Polyposis syndrome, hereditary mixed, 2, 610069 (3) | Polyposis, juvenile intestinal, 174900 (3); Mode of inheritance: Autosomal dominant | ND | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Polyposis syndrome, hereditary mixed, 2, 610069
Juvenile polyposis syndrome, infantile form, 174900
Polyposis, juvenile intestinal, 174900

OMIM

601299

Clinvar variants

Variants in BMPR1A

Penetrance

None

Publications

30847515

Panels with this gene