1. Panels
  2. Childhood interstitial lung disease
  3. BMPR2
STRs in panel
Prev Next
Regions in panel
Prev Next

Childhood interstitial lung disease

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 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

BMPR2 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #178600 & #265450) and the OMIM records were last accessed on 30 December 2025.
Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600; Pulmonary venoocclusive disease 1, OMIM:265450; pulmonary hypertension, primary, 1, MONDO:0024533; pulmonary venoocclusive disease 1, MONDO:0020713; Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600

Created: 30 Dec 2025, 7:22 p.m.
Last Modified: 30 Dec 2025, 7:22 p.m.
Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600
  • pulmonary hypertension, primary, 1, MONDO:0024533
  • Pulmonary venoocclusive disease 1, OMIM:265450
  • Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600
  • pulmonary venoocclusive disease 1, MONDO:0020713
OMIM
600799
Clinvar variants
Variants in BMPR2
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: BMPR2 was added gene: BMPR2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600; pulmonary hypertension, primary, 1, MONDO:0024533; Pulmonary venoocclusive disease 1, OMIM:265450; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600; pulmonary venoocclusive disease 1, MONDO:0020713