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Osteogenesis imperfecta

Gene: BMPR1B

No list

BMPR1B (bone morphogenetic protein receptor type 1B)
EnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 10 panels

2 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
Created: 27 Nov 2015, 3:04 p.m.

Details

Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Disproportionate Short Stature
Tags
curated_removed
OMIM
603248
Clinvar variants
Variants in BMPR1B
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: BMPR1B.

12 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BMPR1B was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory