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  2. Pulmonary Arterial Hypertension
  3. BMP10
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Pulmonary Arterial Hypertension

Gene: BMP10

Amber List (moderate evidence)
BMP10 (bone morphogenetic protein 10)
EnsemblGeneIds (GRCh38): ENSG00000163217
EnsemblGeneIds (GRCh37): ENSG00000163217
OMIM: 608748, Gene2Phenotype
BMP10 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

5 individuals reported but most variants missense, therefore difficult to be confident they are disease causing. LIMITED by ClinGen.
Created: 8 Aug 2023, 5:54 a.m. | Last Modified: 8 Aug 2023, 5:54 a.m.
Panel Version: 1.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary arterial hypertension MONDO:0015924, BMP10-related

Publications

Created: 8 Aug 2023, 5:54 a.m.
Last Modified: 8 Aug 2023, 5:54 a.m.
Panel version: 1.25

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients.
Sources: Literature
Created: 28 Jan 2020, 12:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pulmonary arterial hypertension

Publications

Created: 28 Jan 2020, 12:59 a.m.

Panel version: 0.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, BMP10-related
OMIM
608748
Clinvar variants
Variants in BMP10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BMP10 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, BMP10-related

8 Aug 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BMP10 were set to 30578383

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmp10 has been classified as Amber List (Moderate Evidence).

28 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bmp10 has been classified as Amber List (Moderate Evidence).

28 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BMP10 was added gene: BMP10 was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BMP10 were set to 30578383 Phenotypes for gene: BMP10 were set to Pulmonary arterial hypertension Review for gene: BMP10 was set to AMBER