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  2. Pulmonary Arterial Hypertension
  3. BMPR2
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Pulmonary Arterial Hypertension

Gene: BMPR2

Green List (high evidence)
BMPR2 (bone morphogenetic protein receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000204217
EnsemblGeneIds (GRCh37): ENSG00000204217
OMIM: 600799, Gene2Phenotype
BMPR2 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 8 Aug 2023, 4:53 a.m. | Last Modified: 8 Aug 2023, 4:53 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600

Created: 8 Aug 2023, 4:53 a.m.
Last Modified: 8 Aug 2023, 4:53 a.m.
Panel version: 1.19

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

PAH is the major feature.
Sources: Expert list
Created: 23 Jan 2020, 12:15 a.m.

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

Phenotypes
Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450

Created: 23 Jan 2020, 12:15 a.m.

Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600
  • Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600
  • Pulmonary venoocclusive disease 1 MIM#265450
OMIM
600799
Clinvar variants
Variants in BMPR2
Penetrance
None
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmpr2 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bmpr2 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BMPR2 was added gene: BMPR2 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450 Review for gene: BMPR2 was set to GREEN