Pulmonary Arterial Hypertension
Gene: BMPR1BEnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
DISPUTED by ClinGen.Created: 8 Aug 2023, 6:12 a.m. | Last Modified: 8 Aug 2023, 6:12 a.m.
Panel Version: 1.30
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary arterial hypertension MONDO:0015924, BMPR1B-related
Bryony Thompson (Royal Melbourne Hospital)
Two missense identified in two idiopathic PAH cases, although one of the variants was identified in the unaffected parent. Suggested mechanism of disease for PAH is gain-of-function. No reports associated with BMPR1B since 2012.Created: 27 Jan 2020, 11:42 p.m. | Last Modified: 27 Jan 2020, 11:42 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acromesomelic dysplasia, Demirhan; Brachydactyly C/Symphalangism-like pheno; Brachydactyly type A2; Pulmonary arterial hypertension (PAH)
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Pulmonary arterial hypertension
- Tags
- OMIM
- 603248
- Clinvar variants
- Variants in BMPR1B
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Pulmonary Arterial Hypertension
- Interstitial Lung Disease
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Hand and foot malformations
- Pierre Robin Sequence
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: BMPR1B.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmpr1b has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BMPR1B were set to
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: BMPR1B was changed from None to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: BMPR1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: BMPR1B was added gene: BMPR1B was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: BMPR1B was set to Unknown Phenotypes for gene: BMPR1B were set to Pulmonary arterial hypertension