Familial pulmonary fibrosis
Gene: BMPR2
BMPR2 (bone morphogenetic protein receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000204217
EnsemblGeneIds (GRCh37): ENSG00000204217
OMIM: 600799, Gene2Phenotype
BMPR2 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000204217
EnsemblGeneIds (GRCh37): ENSG00000204217
OMIM: 600799, Gene2Phenotype
BMPR2 is in 4 panels
2 reviews
Philip Molyneaux (Imperial College)
Pulmonary Hypertension, not Fibrosis
Created: 26 Apr 2017, 9:48 a.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Associated with pulmonary hypertension rather than fibrosis -incorrect phenotypeCreated: 9 Feb 2017, 10:27 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary hypertension, familial primary, 1, with or without HHT
- Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
- Pulmonary venoocclusive disease 1
- OMIM
- 600799
- Clinvar variants
- Variants in BMPR2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
27 Apr 2017, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated;Pulmonary venoocclusive disease 1
9 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BMPR2 was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)BMPR2 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory