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  3. BMPR1B
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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 11 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

4 unrelated families with AD coloboma
Created: 5 May 2022, 1:43 a.m. | Last Modified: 5 May 2022, 1:43 a.m.
Panel Version: 0.13789

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
coloboma MONDO#0001476, BMPR1B-related

Publications

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

Created: 5 May 2022, 1:43 a.m.
Last Modified: 5 May 2022, 1:43 a.m.
Panel version: Imported from Mendeliome panel version 0.13789

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants: Severe limb malformations consisting of severe brachydactyly with radial deviation of the fingers, ulnar deviation of the hands, fusion of the carpal/tarsal bones, aplasia of the fibula, and bilateral clubfoot deformity reported. At least 5 families reported.

Mono-allelic variants associated with brachydactyly.
Created: 9 Nov 2021, 5:37 a.m. | Last Modified: 9 Nov 2021, 5:37 a.m.
Panel Version: 0.9685

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 9 Nov 2021, 5:37 a.m.
Last Modified: 9 Nov 2021, 5:37 a.m.
Panel version: Imported from Mendeliome panel version 0.9685

Details

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

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BMPR1B was added gene: BMPR1B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services 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; Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A2 112600