Interstitial Lung Disease
Gene: BMPR1BEnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 11 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
Gain-of-function variants.
PMID: 22374147. Only 2 reported cases. The first child was diagnosed at 6 years old with IPAH and he had no family history of PAH. He had a BMPR1B c.479 G>A p.S160N variant. No segregation was possible. The second child was diagnosed at 12 years of age with IPAH and no family history of PAH. She had a BMPR1B c.1176 C>A p.F392L variant which was also present in his unaffected father, but not mother, suggestive of low penetrance. Both mutations identified revealed experimental gain-of-function.Created: 6 Nov 2021, 12:26 p.m. | Last Modified: 6 Nov 2021, 12:26 p.m.
Panel Version: 0.183
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Childhood pulmonary arterial hypertension.
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Childhood pulmonary arterial hypertension
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BMPR1B were changed from to Childhood pulmonary arterial hypertension
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Suzanna Lindsey-Temple (Liverpool Hospital)gene: BMPR1B was added gene: BMPR1B was added to Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted