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Limb 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 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with Brachydactyly, type A2 112600 in G2P. Numerous variants reported in these phenotypes.
Created: 13 Jul 2016, 7:50 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Acromesomelic dysplasia, Demirhan type, 609441
  • Brachydactyly, type A1, D 616849
  • Brachydactyly, type A2, 112600
OMIM
603248
Clinvar variants
Variants in BMPR1B
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for BMPR1B were set to Acromesomelic dysplasia, Demirhan type, 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2, 112600

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to BMPR1B. Panel: Limb disorders UKGTN was added to BMPR1B. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to BMPR1B. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to BMPR1B. Panel: Limb disorders Expert list was added to BMPR1B. Panel: Limb disorders Emory Genetics Laboratory was added to BMPR1B. Panel: Limb disorders Model of inheritance for gene BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to BMPR1B. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BMPR1B was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BMPR1B was created by Ellen McDonagh