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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. BMPR1B
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GMS Musculoskeletal specialist test group Skeletal dysplasia

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 10 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed in acromesomelic dysplasias, brachydactylies (without extraskeletal manifestations) gp of SD. AT least 3 cases reported. 616849 & 112600 AD. 112600 listed in brachydactylies (without extraskeletal manifestations gp of SD) - only 2 cases reported in OMIM, one is non-penetrant. 616849 not listed in SD nososlogy paper: at least 3 cases reported by Lehmann et al 2003. Green for 2/3 disorders.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Brachydactyly, type A1, D 616849
  • Brachydactyly, type A2 112600
  • Acromesomelic dysplasia, Demirhan type 609441
OMIM
603248
Clinvar variants
Variants in BMPR1B
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: BMPR1B was added gene: BMPR1B was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BMPR1B were set to Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600; Acromesomelic dysplasia, Demirhan type 609441