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Severe Paediatric Disorders

Gene: BMPR1B

Green List (high evidence)

BMPR1B (bone morphogenetic protein receptor type 1B)
EnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 11 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: BMPR1B; Recommended initial gene rating: Green List (high evidence); Phenotypes: Acromesomelic dysplasia, Demirhan type, 609441 (3) | Brachydactyly, type A1, D, 616849 (3) | Brachydactyly, type A2, 112600 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal dominant
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
  • Acromesomelic dysplasia, Demirhan type, 609441
  • Brachydactyly, type A2, 112600
  • Brachydactyly, type A1, D, 616849
OMIM
603248
Clinvar variants
Variants in BMPR1B
Penetrance
None
Publications
Panels with this gene

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